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         Wagr Syndrome:     more detail
  1. Aniridia and WAGR Syndrome: A Guide for Patients and Their Families

61. Aniridia
For a child to be considered as having wagr syndrome, he / she must exhibit aminimum of two of the four conditions * S Aniridia factsheet
http://ibis-birthdefects.org/start/aniridia.htm
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... Etchings Please Explore: 11p Chromosome Eye / Ocular WAGR S. Wilms Tumor ... Key Information Sources Topics include Title and An2 Paired Box Homeotic Gene; PAX6 Gillespie S. Special Resources Aniridia A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group ANIRIDIA; AN1 from OMIM ... A form of aniridia is not linked to markers on 2p as previously thought, ... There probably is no form of autosomal dominant aniridia other than that which maps to 11p13 and was designated AN2 ... Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula ... mutation rate about 4 x 10(-6) per gamete per generation. Affected persons may be visually handicapped because of nystagmus, cataract or glaucoma ... Undoubtedly more than one "cause" of aniridia exists ... Gove et al. (1961) identified 77 cases of aniridia descended from an affected woman born in 1824 ... Delleman and Winkelman (1973) emphasized that atypical colobomata and slitlike defects of the iris stroma may be partial expressions of aniridia ... a fourth type associated with Wilms tumor, genital abnormalities, and deletion of 11p13 ( WAGR syndrome ) ... PAIRED BOX GENE 6; PAX6

62. Cancer Syndromes
wagr syndrome ANIRIDIA AND ABSENT PATELLA WILMS TUMOR 1 ECTOPIA PUPILLAE . The syndrome subsequently became known as the wagr syndrome.
http://ibis-birthdefects.org/start/cancersy.htm
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... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Nephroblastoma Aniridia,Type II Wims Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Wilms Tumor 3 Wilms Tumor 2 Multiple Tumor Associated Chromosome Region 1 Special Resources Cancer Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Groups [Ukrainian] Online Mendelian Inheritance in Man by OMIM ANIRIDIA ... ANIRIDIA, CEREBELLAR ATAXIA ... WAGR SYNDROME ... ANIRIDIA AND ABSENT PATELLA ... WILMS TUMOR 1 ... ECTOPIA PUPILLAE ... CAT EYE SYNDROME ... PETERS ANOMALY ... EXOSTOSES ... SPLIT-HAND/FOOT ... Wilms Tumor Nephroblastoma by OMIM Rather numerous instances of multiple sibs with Wilms tumor have been described ... The syndrome of aniridia, hemihypertrophy and other congenital anomalies with Wilms tumor, subsequently known as the WAGR syndrome, was first described by Miller et al. (1964) ... . Riccardi et al. (1978) observed a triad of aniridia, ambiguous genitalia and mental retardation (AGR triad) in 3 patients with an interstitial deletion of the short arm of chromosome 11 ... Marshall et al. (1982) studied 14 patients with aniridia .... 6 had interstitial deletion of 11p of various lengths. Band 11p13 was included in the deletion in all 6 cases ...

63. Netwd Health Directory: WAGR Syndrome
Information and resources from Netwd health directory wagr syndrome.
http://netwd.com/diseases/genetic-disorders/wagr-syndrome.html
Netwd Health Directory
WAGR Syndrome
NORD: WAGR Syndrome

Offers the synonyms, a general discussion and further resources.
Reaching Out - The WAGR Network

Parent support network for families and professionals looking for information about WAGR Syndrome/Aniridia.
WAGR Syndrome

Information for families or physicians interested in learning more about WAGR Syndrome.
Yahoo! Groups : WAGR Syndrome

A brief description of this support group. Join, post and read messages.
Did you know? Insulin helps glucose to enter cells, where it is used for energy. Main Page Eosinophilia Hemochromatosis Lymphedema ... Thalassemia Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

64. Results Of The Search
Focal segmental glomerulosclerosis in solitary kidney in wagr syndrome. M Merta . Aniridia as part of a wagr syndrome in a girl whose brother presented
http://invention.swmed.edu/trite/abstracts/user-1015659130/results.shtml

New This Month
New This Year Abstract TRITE Statistics Results - FULL MEDLINE:
Aniridia (PAX6(+/-)).
David S Walton J Pediatr Ophthalmol Strabismus 2005 Mar-Apr;42(2);128.

Score: 0.794
Nephroblastoma.
Med J Aust 1977 May;1(20);729-30.

Score: 0.729
PAX6 mutations in aniridia.
I M Hanson ... V van Heyningen Hum Mol Genet 1993 Jul;2(7);915-20.

Score: 0.698
Aniridia and wilms's tumour (nephroblastoma).
T F Mackintosh ... I M Strachan Br J Ophthalmol 1968 Nov;52(11);846-8.

Score: 0.689
A new PAX6 mutation in familial aniridia.
I Hanson ... V van Heyningen J Med Genet 1995 Jun;32(6);488-9.

Score: 0.666
Del11p13/nephroblastoma without aniridia.
C Turleau ... C Junien Hum Genet 1984 ;67(4);455-6.

Score: 0.660
Aniridia: recent achievements in paediatric practice.
I Ivanov ... R Weitz Eur J Pediatr 1995 Oct;154(10);795-800.

Score: 0.658
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
A Malandrini ... A Renieri Clin Genet 2001 Aug;60(2);151-4.

Score: 0.632
Aniridia and essential atrophy of the iris.
D C MACDIARMID

Score: 0.620

65. Wilms Tumor
wagr syndrome the acronym WAGR stands for the four diseases present in WAGRsyndrome, including Wilms tumor, aniridia (absence of the iris,
http://www.healthsystem.virginia.edu/uvahealth/peds_oncology/wilms.cfm
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66. Wilms' Tumour - Genetics
Medline Search Wilms tumor AND wagr syndrome (PubMed) Limit search to Last Related Resources; wagr syndrome (Online Mendelian Inheritance in Man,
http://www.cancerindex.org/geneweb/X210202.htm
Cancer Genetics Web
www.cancer genetics.org
Wilms' Tumour
Mutated Genes and Abnormal Protein Expression
Recurrent Chromosome Abnormalities
Overview of the Molecular Biology of Wilms' Tumour
Familial Wilms' Tumour
Wilms' tumor and WAGR syndrome
Wilms' Tumour and Beckwith-Wiedemann Syndrome
Denys-Drash Syndrome and Wilms' Tumour
Perlman Syndrome and Wilms' Tumour
LOH 16q in Wilms' Tumour LOH 19q in Familial Wilms' Tumour (FWT2 19q13.3-q13.4) Wilms' Tumour: Clinical and Epidemiological Resources Mutated Genes and Abnormal Protein Expression Gene Location Topics IGF2R Imprinting Errors in Wilms' Tumour CDKN2A Expression in Wilms' Tumour SET ( PHAPII , I2PP2A ) SET Expression in Wilms' Tumour WT1 and Wilms' Tumour WT2 and Wilms' Tumour (putative) IGF2 Imprinting and Overexpression in Wilms' Tumour ... GPC3 Expression in Wilms' Tumour Recurrent Chromosome Abnormalities LOH 16q in Wilms' Tumour LOH 19q in Familial Wilms' Tumour (FWT2 19q13.3-q13.4)
Related links:
Recurrent Chromosome Abnormalities - Wilms' tumor (Cancer Genome Anatomy Project)
Overview of the Molecular Biology of Wilms' Tumour Familial Wilms' tumour (defined as either bilateral disease or a family history of Wilms' tumour) account for approximately 5% of cases. For those with sporadic (unilateral) disease the risk of Wilms' tumour among their offspring is low: in a series of 179 children from 96 survivors of unilateral Wilms' (Li, 1988) non had developed the disease (upper 95% CI 2%). Children with

67. Health Library -
12.42.224.150/library/healthguide/enus/SelfHelp/t 12.42.224.150/library/healthguide/en-us/illnesscon 137357 GENITOURINARY DYSPLASIA COMPONENT OF wagr syndrome; GUDIn the wagr syndrome, the G stands for genitourinary dysplasia, the other featuresbeing aniridia and mental retardation. The evidence from studies of
http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

68. Oncology - Wilm's Tumor
wagr syndrome the acronym WAGR stands for the four diseases present in WAGRsyndrome, including Wilm’s tumor, aniridia (absence of the iris,
http://www.chkd.org/Oncology/wilms.asp
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For a doctor who specializes in this topic, click here. Wilm's Tumor What is Wilm’s tumor?
Wilm’s tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of the kidney. It is the most common type of renal (kidney) cancer and accounts for about 6 percent of all childhood cancers. Approximately 500 children in the US are diagnosed with a Wilm’s tumor each year. The disease can occur at any age between infancy and 15 years, but, in most cases, the tumor is detected by the age of 3. This cancer affects males and females equally.

69. Library Page Numbers 10 To 15
A submicroscopic deletion of 11p13 associated with the wagr syndrome, Third Case of wagr syndrome with severe obseity and constitutional deletion of
http://www.chromodisorder.org/sytrix/card_list.php3?dbid=80&maxlist=10

70. Please Help CDO Chromosome Deletion Outreach, Inc.
Chromosome 11 Deletion/wagr syndrome Support Group www.wagr.org Spanish Associationof Aniridia. 10q information home.comcast.net/~daryl59/10q/
http://www.chromodisorder.org/support2.htm
Education, Advocacy, Information
Support for all those affected by any rare chromosome disorder Since
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Chromosome 3 Registry
Wolf Hirschhorn Support Group www.4p-supportgroup.org Cri du Chat Support USA www.fivepminus.org Cri du Chat Syndrome - International Links www.criduchat.com Cri Du Chat Support Group of Australia Inc. www.criduchat.asn.au Cri du Chat Syndrome Support Group (Culcheth, England) www.cridchat.u-net.com Chromosome 7 Information www.chr7.org/

71. Wilms' Tumor - Children's Hospital Boston
wagr syndrome the acronym WAGR stands for the four diseases present in WAGRsyndrome, including Wilms tumor, aniridia (absence of the iris,
http://www.childrenshospital.org/az/Site1808/mainpageS1808P0.html
or find by letter: A-F G-L M-R S-Z My Child Has... Home Wilms' Tumor Wilms' Tumor Programs that treat this condition or perform this procedure Urologic Tumors Center for Perinatal Urology Stem Cell Transplantation Kidney Tumors ... General Surgery Program What is Wilms' tumor (WT)? Wilms' tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of the kidney. It is the most common type of renal (kidney) cancer and accounts for about 6 percent of all childhood cancers. Approximately 400 children in the United States are diagnosed with a Wilms' tumor each year. The disease can occur at any age between infancy and 15 years, but, in most cases, the tumor is detected by the age of 3. This cancer affects males and females equally. The tumor can be very large and it may spread (metastasize) to other body tissues. The most common site for Wilm's tumor to metastasize is the lungs. Lesions may also occur, however, in the liver, the other kidney, brain, and/or bones. In approximately 5 to 10 percent of children with Wilms' tumor, both kidneys are involved. As you read further below, you will find general information about Wilms' tumor. If you would like to view summary information about cancer first, see the cancer overview.

72. Human Protein: Q6LD16 - Wilms' Tumor Gene (Fragment). EMBL Bioinformatic Harvest
and/or wilms tumor. there is phenotypic overlap with wagr syndrome and frasiersyndrome. inheritance is autosomal dominant, but most cases are sporadic.
http://harvester.embl.de/harvester/Q6LD/Q6LD16.htm
Human protein: Q6LD16 - Wilms' tumor gene (Fragment). EMBL
FORUM Length: 18 aa , molecular weight: 1868 Da , CRC64 checksum: MGSDVRDLNA LLPAVPSL 18 //
SOURCE
BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University
Wilms tumor 1
UniGene
LocusLink OMIM GenAtlas ... Genome Browser Aliases
  • WILMS TUMOR 1 GENE
Chromosomal Location
Chromosome/Cytoband Microarray Gene Expression Data
Data available Show Gene Expression Data LocusLink Information
Locus Link Summary This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. Multiple transcript variants, resulting from alternative splicing at two coding exons, have been well characterized. There is also evidence for the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. SwissProt Information
SwissProt Accession No.

73. MEDIS-Research-Division Of Human Genetics-Members-J.Crolla
B., Verloes, A. Three patients with hallucal polydactyly and wagr syndrome, Perotti, D. Bilateral preaxial polydactyly in a wagr syndrome patient.
http://www.som.soton.ac.uk/research/geneticsdiv/members/jcrolla.htm
Home Education Research About ... Research MM_preloadImages('/research/molecular/_borders/chlamhoechsthi.gif'); Human Genetics
Dr John A Crolla Molecular cytogenetics. Use of fluorescence in situ hybridization (FISH) for the study of both structural and numerical constitutional chromosome abnormalities.

I am a clinical molecular cytogeneticist at the Wessex Regional Genetics Laboratory. The Molecular Cytogenetics laboratory facilitates the use of FISH technology, principally to metaphase chromosomes, but also comparative genomic hybridization (CGH) for the genetic analysis of paediatric tumours. My research interests are focused on three areas. de novo constitutional chromosome rearrangement found in patients with clinically abnormal phenotypes. This work is being carried out in collaboration with the Sanger Centre, Cambridge, who are providing us with the locus specific genomic clones. The principal aim of this work is to identify clones which span the breakpoints, and following sequencing, to identify genes which may be disrupted by the chromosomal rearrangement. Secondly, in collaboration with Dr Veronica van Heyningen at the MRC Human Genetics Unit in Edinburgh, I have been using FISH with a library of locus-specific probes to determine the overall frequency of chromosomal mutations in distal 11p13 in patients ascertained with aniridia (both sporadic and familial).

74. Prague Medical Report
Focal segmental glomerulosclerosis in solitary kidney in wagr syndrome. page 069 Abstract wagr syndrome consists of Wilms’ tumour, aniridia,
http://www.lf1.cuni.cz/article.asp?nArticleID=1318&nLanguageID=1

75. Wilms Tumor - Children's Memorial Hospital (Chicago, IL)
wagr syndrome. The acronym WAGR stands for the four diseases present in WAGRsyndrome, including Wilms tumor, aniridia (absence of the iris,
http://www.childrensmemorial.org/depts/cancer/wilms1.asp
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    Wilms tumor
    What is Wilms tumor?
    Wilms tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of the kidney. It is the most common type of renal (kidney) cancer and accounts for about 6 percent of all childhood cancers. Approximately 400 children in the US are diagnosed with a Wilms tumor each year. The disease can occur at any age between infancy and 15 years, but, in most cases, the tumor is detected by the age of 3. This cancer affects males and females equally. The tumor can be very large and it may spread (metastasize) to other body tissues. The most common site for Wilms tumor to metastasize is the lungs. Lesions may also occur, however, in the liver, the other kidney, brain, and/or bones. In approximately 5 to 10 percent of children with Wilms tumor, both kidneys are involved. Other tumors such as rhabdoid tumors of the kidney, clear cell sarcoma of the kidney, and mesoblastic nephroma occur in the kidney but are not Wilms tumors and have different prognoses and treatment.
    What causes Wilms tumor?

76. Renal Failure In The Denys-Drash And Wilms' Tumor-Aniridia Syndromes -- Breslow
Children with the wagr syndrome invariably have a constitutional One patientwith the wagr syndrome died of endstage renal disease at the age of 27.0
http://cancerres.aacrjournals.org/cgi/content/full/60/15/4030

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HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Cancer Research Clinical Cancer Research Molecular Cancer Therapeutics Molecular Cancer Research This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Breslow, N. E. Articles by Green, D. M. Cancer Research 60, 4030-4032, August 1, 2000]
American Association for Cancer Research
Advances in Brief
Norman E. Breslow Janice R. Takashima Michael L. Ritchey Louise C. Strong and Daniel M. Green Department of Biostatistics, University of Washington, Seattle Washington 98195-7232 [N. E. B.]; Fred Hutchinson Cancer Research Center, Seattle, Washington 98109 [J. R. T.]; Department of Surgery, University of Texas [M. L. R.] and Department of Experimental Pediatrics/Genetics, M. D. Anderson Cancer Center [L. C. S.], Houston, Texas 77030; and Department of Pediatrics, Roswell Park Cancer Institute, Buffalo, New York 14203 [D. M. G.]
ABSTRACT Top
ABSTRACT
Introduction
Patients and Methods
Results and Discussion
REFERENCES
Nearly 6000 patients enrolled in four clinical trials of the National death or for a median of 11.0 years of survival for the onset

77. WAGR-oireyhtymä - Kehitysvammahuollon Tietopankki
WAGRoireyhtymä on varsin harvinainen sairaus, jonka nimi tulee wagr syndrome,OMIM, Victor A. McKusick 11p13, WT1 to 11p11.2, MDK, The OMIM Gene map
http://www.saunalahti.fi/kup/syndroma/wagr.htm
Kehitysvammahuollon tietopankki
WAGR-oireyhtymä
WAGR-kompleksi
WAGR-oireyhtymä on varsin harvinainen sairaus, jonka nimi tulee englanninkielisistä sanoista W ilms tumor ( Wilmsin kasvain A niridia (silmän värikalvon puuttuminen), G enitourinary abnormalities (epämuodostuneet suku- ja virtsaelimet) ja Mental R etardation ( kehitysvammaisuus ). Nimi antaa hyvän kuvan sairauden ilmenemistavasta. Oireet voivat tosin jossain määrin vaihdella ja niitä voi olla enemmänkin. WAGR-oireyhtymä johtuu useimmiten sattumanvaraisesta sikiökehityksen aikaisesta mutaatiosta. Joissakin tapauksissa on tosin tavattu autosomaalisesti vallitsevaa periytyvyyttä Millerin ja kumppaninen v. 1964 kuvaama oireyhtymä on 11. kromosomin (11p13) mikrodeleetion aiheuttama useamman geenin häiriötila. Wilmsin tuumorin esiintyvyys on n. 8/1.000.000. Noin 30 %:lla 11p13-deleetioiden vammauttamista on tuo kasvain. Lisätietoja: WAGR SYNDROME, OMIM, Victor A. McKusick
11p13, WT1 to 11p11.2, MDK, The OMIM Gene map

WAGR Syndrome, eMedicine, Steven K Bergstrom

WAGR Syndrome, NORD
...
Fetaalinen aivoproteiini 239
Kari Viitapohja 9.1.1998, 19.6.2000, 8.12.2002, 15.6.2004 Kehitysvammaisten Uudenmaan tukipiiri ry.

78. Wilm's Tumor
wagr syndrome the acronym WAGR stands for the four diseases present in WAGRsyndrome, including Wilm s tumor, aniridia (absence of the iris,
http://www.chw.org/display/PPF/DocID/1997/router.asp
Site Index About Cancer in Children Chemotherapy Bone Marrow Transplant ... Oncology : Wilm's Tumor E-mail this page Print this page
Wilm's Tumor
What is Wilm's tumor? Wilm's tumor, also called nephroblastoma, is a malignant (cancerous) tumor originating in the cells of the kidney. It is the most common type of renal (kidney) cancer and accounts for about 6 percent of all childhood cancers.
Approximately 400 children in the US are diagnosed with a Wilm's tumor each year.
The disease can occur at any age between infancy and 15 years, but, in most cases, the tumor is detected by the age of 3. This cancer affects males and females equally.
The tumor can be very large and it may spread (metastasize) to other body tissues. The most common site for Wilm's tumor to metastasize is the lungs. Lesions may also occur, however, in the liver, the other kidney, brain or bones. In approximately 5 to 10 percent of children with Wilm's tumor, both kidneys are involved.
What causes Wilm's tumor? It is uncommon for Wilm's tumor to run in families. Less than 2 percent of cases will have an affected relative. Most cases of Wilm's are considered sporadic (occur by chance) and are the result of genetic mutations that affect cell growth in the kidney. These mutations generally arise after birth, but, in some cases, children are born with a genetic alteration that predisposes them to cancer.
A small percentage of patients with Wilm's tumor have one of three genetic syndromes, including the following:

79. ULTRASOUND Messages For March, 1999: Re: Adrenal, Enlarged, Fetal
NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM 194072 wagr syndrome *147470 INSULINLIKE CAT 137357 GENITOURINARY DYSPLASIA COMPONENT OF wagr syndrome;
http://forums.obgyn.net/ultrasound/ULTRASOUND.9903/0053.html
-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing
Re: adrenal, enlarged, fetal
From: James S Smeltzer MD gaperina@mindspring.com
Thu Mar 11 04:50:18 1999
Dr Morader, I agree this is an adrenal and appears large. I believe that the spleen is seen in your first image lateral to it. The idea of fetal "stress" is an interesting one. I would also rule out CAH, but the right should be also. If it is truly unilateral, then a renal or adrenal tumor is likely. In the fetal age group two come to mind: it should be followed for neuroblastoma or possible Wilm's Tumor from that kidney, especially as some syndromes are associated with it, and another anomaly is found: Searching OMIM, for jejunal atresia we get:

80. The Health Library — Genetics And Birth Defects
Waardenburg Syndrome Type 1GeneReviews. wagr syndrome. wagr syndromeWAGR.org wagr syndromeeMedicine wagr syndromeOMIM, NCBI. Williams Syndrome
http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_sw.
Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (S - W) Jump to: A B C D ... P Q R S T U ... W X Y Z Septo-Optic Dysplasia Septo-Optic Dysplasia:NINDS De Morsier Syndrome:Madisons Foundation Septo-Optic Dysplasia / Optic Nerve Hypoplasia:MAGIC Foundation Sex Chromosome Variations Sex Determination Genes and Disease: SRY: Sex Determination:National Center for Biotechnology Information Variations in Females 45,X, see Turner Syndrome Trisomy X:Madisons Foundation 47,XXX Syndrome:PacNoRGG [PDF] Triple X Syndrome: Genetics Home Reference, NLM Variations in Males XX Male Syndrome:MedicineNet XX Male Syndrome:GeneReviews 47,XXY, see Kleinfelter Syndrome XYY Syndrome:NORD 47,XYY Syndrome:PacNoRGG [PDF] 47,XYY Syndrome: Genetics Home Reference, NLM Smith-Lemli-Opitz Syndrome Smith Lemli Opitz Syndrome:Madisons Foundation SLO/RSH:Smith-Lemli-Opitz Syndrome Advocacy and Exchange Smith-Lemli-Opitz Syndrome:Genetics Home Reference, NLM

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