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jackson-weiss syndrome - genetic disorder with facial and skull malformations
Definition for Jackson-Weiss Syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.
some common symptoms
deformity of foot (feet)
deformity of great toe
deformity skull
face deformities
some related diagnoses
1 - 6 of
6
diagnoses
thalassemia intermedia
neurofibromatosis type 1
11q deletion syndrome
incontinenti pigmenti achromians
thalassemia major
hypopituitarism
more
do i have 'Jackson-Weiss Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'jackson-weiss syndrome'
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8
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Molecular Genetic Studies
Jackson-Weiss Syndrome and Molecular Genetic Studies
X-ray foot (feet)
Jackson-Weiss Syndrome and X-ray foot (feet)
X-ray hand(s)
Jackson-Weiss Syndrome and X-ray hand(s)
X-ray skull
Jackson-Weiss Syndrome and X-ray skull
Amniocentesis
Jackson-Weiss Syndrome and Amniocentesis
Chorionic Villus Sampling (CVS)
Jackson-Weiss Syndrome and Chorionic Villus Sampling (CVS)
Prenatal Ultrasound
Ultrasound on the fetus before birth
Jackson-Weiss Syndrome and Prenatal Ultrasound
X-rays
Jackson-Weiss Syndrome and X-rays
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therapeutic procedures for 'Jackson-Weiss Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Jackson-Weiss Syndrome:
therapeutic procedure search results for 'jackson-weiss syndrome'
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rankings are computer generated. please consult your health care provider.
X-ray foot (feet)
Jackson-Weiss Syndrome and X-ray foot (feet)
medications search results for 'jackson-weiss syndrome'
rankings are computer generated. please consult your health care provider.
web search results for jackson-weiss syndrome
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1 - 50
- Jackson-Weiss Syndrome
Jackson-Weiss syndrome - Wikipedia, the free encyclopedia
Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by foot ... Century of Jackson-Weiss syndrome: further definition of clinical and ...
http://en.wikipedia.org/wiki/Jackson-Weiss_syndrome
en.wikipedia.org
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summary
Jackson-Weiss syndrome - Genetics Home Reference
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities ... Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome
ghr.nlm.nih.gov
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summary
Jackson-Weiss Syndrome - Yahoo! Health
Important It is possible that the main title of the report Jackson-Weiss Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/musculoskeletal-resources/jackson-we...
health.yahoo.com
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Jackson-Weiss syndrome: identification of two novel FGFR2 missense ...
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations ... Jackson-Weiss syndrome is a rare skeletal disorder characterized by ...
http://www.ncbi.nlm.nih.gov/pubmed/9385368
www.ncbi.nlm.nih.gov
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Jackson-Weiss syndrome - Educational resources - Information pages ...
... in the Genetics Home Reference condition summary on Jackson-Weiss syndrome. Ask the Geneticist: Inheritance of Jackson-Weiss syndrome ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome/show/Educational+resources
ghr.nlm.nih.gov
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Century of Jackson-Weiss syndrome: further definition of clinical and ...
Jackson-Weiss syndrome (JWS) is a condition consisting of craniosynostosis ... Syndrome. Substances: Receptors, Fibroblast Growth Factor. Grant Support: ...
http://www.ncbi.nlm.nih.gov/pubmed/11343323
www.ncbi.nlm.nih.gov
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Jackson-Weiss syndrome - MedlinePlus - Health information - Genetics ...
Genetic Conditions > Jackson-Weiss syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Jackson-Weiss syndrome. ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show ...
... 24 Crouzon and one Jackson-Weiss syndrome patients were screened for mutations ... In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was ...
http://www.ncbi.nlm.nih.gov/pubmed/8528214
www.ncbi.nlm.nih.gov
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Jackson-Weiss syndrome - Patient support - For patients and families ...
Genetic Conditions > Jackson-Weiss syndrome > Patient support - For patients ... in the Genetics Home Reference condition summary on Jackson-Weiss syndrome. ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome/show/Patient+support
ghr.nlm.nih.gov
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Jackson-Weiss syndrome - References - Genetics Home Reference
... develop the Genetics Home Reference condition summary on Jackson-Weiss syndrome. ... Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome/show/References
ghr.nlm.nih.gov
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Jackson-Weiss syndrome - Related Gene(s) - Genetics Home Reference
Genetic Conditions > Jackson-Weiss syndrome > Related Gene(s) ... dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ...
http://ghr.nlm.nih.gov/condition=jacksonweisssyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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Jackson-Weiss syndrome
The Jackson-Weiss syndrome is characterized by tarsal and/or metatarsal ... Jackson-Weiss syndrome was mapped to the. 10q25-q26 region in the original family (2) ...
http://www.orpha.net/data/patho/GB/uk-Jackson-WeissSyndrome2005.pdf
www.orpha.net
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Jackson-Weiss and Crouzon syndromes are allelic with mutations in ...
Jackson-Weiss syndrome is an autosomal dominant condition characterized by ... in the Jackson-Weiss syndrome family in which the syndrome was originally described. ...
http://www.ncbi.nlm.nih.gov/pubmed/7874170
www.ncbi.nlm.nih.gov
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Talk:Jackson-Weiss syndrome - Wikipedia, the free encyclopedia
Talk:Jackson-Weiss syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... "http://en.wikipedia.org/wiki/Talk:Jackson-Weiss_syndrome" ...
http://en.wikipedia.org/wiki/Talk:Jackson-Weiss_syndrome
en.wikipedia.org
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CROUZON SYNDROME - Pedbase.org
DEFINITION: A syndrome characterized by craniosynostosis and dysmorphic ... 1 Pfeiffer Syndrome. 2 Crouzon Syndrome Jackson-Weiss Syndrome. 3 Achondroplasia ...
http://pedbase.org/c/crouzon-syndrome/
pedbase.org
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Orphanet: Jackson Weiss syndrome
Jackson-Weiss syndrome. Orpha number. ORPHA1540. Prevalence of rare diseases. Exceptional ... The Jackson-Weiss syndrome is characterized by tarsal and/or metatarsal ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1540
www.orpha.net
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summary
MedlinePlus: Facial Injuries and Disorders
Crouzon Syndrome (Craniofacial Dysostosis)(Cleft Palate Foundation) ... Genetics Home Reference: Jackson-Weiss syndrome(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html
www.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ... Jackson Weiss Syndrome. Jackson-Weiss Craniosynostosis. Jacobsen Syndrome ...
http://www.webmd.com/a-to-z-guides/health-topics/ja-je.htm
www.webmd.com
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Antley-Bixler syndrome - Wikipedia, the free encyclopedia
Osteosclerosis (Raine syndrome) · Osteopoikilosis · Osteopetrosis · Boomerang ... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ...
http://en.wikipedia.org/wiki/Antley-Bixler_syndrome
en.wikipedia.org
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FGFR-Related Craniosynostosis Syndromes -- GeneReviews -- NCBI Bookshelf
... they were not medially deviated as one would expect with Jackson-Weiss syndrome. ... been associated with Jackson-Weiss syndrome, osteoglophonic dysplasia, and ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis
www.ncbi.nlm.nih.gov
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FGFR-Related Craniosynostosis Syndromes
syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss ... been associated with Jackson-Weiss syndrome, osteoglophonic dysplasia, and autosomal ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Encyclopedia J-Jz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Jackson Weiss Syndrome. Jansen Type ...
http://health.yahoo.com/ency/j/
health.yahoo.com
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FGFR2 - fibroblast growth factor receptor 2 (bacteria-expressed kinase ...
Jackson-Weiss syndrome - caused by mutations in the FGFR2 gene. Jackson-Weiss syndrome is caused by one of several mutations that change single ...
http://ghr.nlm.nih.gov/search/term=11042148?area=pubmed-id
ghr.nlm.nih.gov
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Kallmann syndrome - Wikipedia, the free encyclopedia
Kallmann syndrome was described in 1944 by Franz Josef Kallmann, a German ... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ...
http://en.wikipedia.org/wiki/Kallmann_syndrome
en.wikipedia.org
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AceView: gene:FGFR2, a comprehensive annotation of human, mouse and ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... Jackson-Weiss syndrome, Beare ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=FGFR2
www.ncbi.nlm.nih.gov
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Apert syndrome - Related Gene(s) - Genetics Home Reference
... dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=apertsyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common ...
... of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. ... is identical to the mutation previously associated with Jackson-Weiss syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/7581378
www.ncbi.nlm.nih.gov
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Orphanet: Simple search
Molecular diagnosis of Jackson-Weiss syndrome. Zentrum für medizinische Genetik Osnabrück ... Molecular Diagnosis of Jackson-Weiss Syndrome. Gen FGFR 2 ...
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simp...
www.orpha.net
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summary
Pfeiffer syndrome - Related Gene(s) - Genetics Home Reference
... growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) ... dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ...
http://ghr.nlm.nih.gov/condition=pfeiffersyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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Pfeiffer syndrome - Wikipedia, the free encyclopedia
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of ... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ...
http://en.wikipedia.org/wiki/Pfeiffer_syndrome
en.wikipedia.org
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Entrez Gene FGFR2 - Genetics Home Reference
... Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen ... somatic. Jackson-Weiss syndrome. LADD syndrome. Pfeiffer syndrome ...
http://ghr.nlm.nih.gov/ghr/locuslink/2263
ghr.nlm.nih.gov
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Fibroblast growth factor receptor 2 (FGFR2)
Cow protein-coding gene FGFR2. Represented by 86 ESTs from 29 cDNA libraries. ... 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) (FGFR2), mRNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Bt&CID=8088
www.ncbi.nlm.nih.gov
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Search Results - Genetics Home Reference
Jackson-Weiss syndrome. Condition summary. Related classification: Craniosynostoses ... dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ...
http://ghr.nlm.nih.gov/search?query="Craniosynostoses"
ghr.nlm.nih.gov
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Bone Diseases - Genetics Home Reference
Jackson-Weiss syndrome. Kniest dysplasia. Marfan syndrome. McCune-Albright syndrome ... Saethre-Chotzen syndrome. Schimke immuno-osseous dysplasia ...
http://ghr.nlm.nih.gov/conditionGroup=bonediseases
ghr.nlm.nih.gov
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Muenke Syndrome -- GeneReviews -- NCBI Bookshelf
Jackson-Weiss syndrome 1 -Bilateral coronal synostosis -Tarsal ... 1. Jackson-Weiss syndrome is most likely limited to members of the original pedigree. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=muenke
www.ncbi.nlm.nih.gov
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Estrogen insensitivity syndrome - Wikipedia, the free encyclopedia
... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ... hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome) ...
http://en.wikipedia.org/wiki/Estrogen_insensitivity_syndrome
en.wikipedia.org
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MedlinePlus: Head and Brain Malformations
Aicardi Syndrome(National Institute of Neurological Disorders and Stroke) ... Genetics Home Reference: Jackson-Weiss syndrome(National Library of Medicine) ...
http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html
www.nlm.nih.gov
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Craniosynostoses - Genetics Home Reference
Apert syndrome. Beare-Stevenson cutis gyrata syndrome. Crouzonodermoskeletal syndrome. Jackson-Weiss syndrome. Muenke syndrome. Pfeiffer syndrome. Saethre-Chotzen ...
http://ghr.nlm.nih.gov/conditionGroup=craniosynostoses
ghr.nlm.nih.gov
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Muenke Syndrome
Jackson-Weiss syndrome. 1 -Bilateral coronal synostosis -Tarsal ... 1. Jackson-Weiss syndrome is most likely limited to members of the original pedigree. ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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summary
Facial Injuries and Disorders - Genetics Home Reference
Crouzonodermoskeletal syndrome. Crouzon syndrome. Jackson-Weiss syndrome. Muenke syndrome ... Chotzen syndrome. Simpson-Golabi-Behmel syndrome. Treacher ...
http://ghr.nlm.nih.gov/conditionGroup=facialinjuriesanddisorders
ghr.nlm.nih.gov
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123150
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123150
www.ncbi.nlm.nih.gov
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Head and Brain Malformations - Genetics Home Reference
Greig cephalopolysyndactyly syndrome. hereditary neuropathy with ... Jackson-Weiss syndrome. Muenke syndrome. Noonan syndrome. Pallister-Hall syndrome ...
http://ghr.nlm.nih.gov/conditionGroup=headandbrainmalformations
ghr.nlm.nih.gov
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FGFR2 - Related Condition(s) - Genetics Home Reference
Apert syndrome. Beare-Stevenson cutis gyrata syndrome. cancers. Crouzon syndrome. Jackson-Weiss syndrome. Pfeiffer syndrome. other disorders ...
http://ghr.nlm.nih.gov/gene=fgfr2/show/Related+Condition(s)
ghr.nlm.nih.gov
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NCBI CDD cd05101
CDD is a protein domain classification resource of the National Center for ... Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, and Pfeiffer syndrome. ...
http://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=88384
www.ncbi.nlm.nih.gov
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summary
Apert syndrome - Wikipedia, the free encyclopedia
Apert Syndrome information from Seattle Children's Hospital Craniofacial Center ... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ...
http://en.wikipedia.org/wiki/Apert_syndrome
en.wikipedia.org
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Signal transducer activity - Gene Category - Genetics Home Reference
CREBBP: CREB binding protein (Rubinstein-Taybi syndrome) EDAR: ectodysplasin A receptor ... dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ...
http://ghr.nlm.nih.gov/GenesByCategory/GO_0003674,GO_0060089,GO_0004871
ghr.nlm.nih.gov
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Chromosome 10 - Conditions related to genes on chromosome 10 - Genetics ...
Apert syndrome. autosomal dominant partial epilepsy with auditory features ... Jackson-Weiss syndrome. metachromatic leukodystrophy ...
http://ghr.nlm.nih.gov/chromosome=10/show/Conditions
ghr.nlm.nih.gov
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summary
Crouzon syndrome - Wikipedia, the free encyclopedia
Specifically, this syndrome affects the first branchial (or pharyngeal) arch, ... Bixler syndrome · Pfeiffer syndrome · Crouzon syndrome · Jackson-Weiss syndrome ...
http://en.wikipedia.org/wiki/Crouzon_syndrome
en.wikipedia.org
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CD gene family - Genetics Home Reference
Huntington disease-like syndrome. hypochondroplasia. Jackson-Weiss syndrome. Kallmann syndrome. L1 syndrome. Muenke syndrome. Pfeiffer syndrome ...
http://ghr.nlm.nih.gov/geneFamily=cd
ghr.nlm.nih.gov
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CD gene family - Related Gene(s) - Genetics Home Reference
... (Osler-Rendu-Weber syndrome 1) ... 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) ... jagged 1 (Alagille syndrome) L1CAM: L1 cell adhesion ...
http://ghr.nlm.nih.gov/geneFamily=cd/show/Related+Gene(s)
ghr.nlm.nih.gov
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