Correlation of linkage data with phenotype in eight families with Stickler syndrome

American Journal of Medical Genetics

Volumn 80, Issue 2, 1998, Pages 121-127

  Wilkin, Douglas J ^a   Mortier, Geert R ^b   Johnson, Carey L ^c   Jones, Marilyn C ^d   De Paepe, Anne ^b   Shohat, Mordechai ^e   Wildin, Robert S ^f   Falk, Rena E ^g   Cohn, Daniel H ^g,h  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c MediGene Services   (Canada)

^d RADY CHILDREN'S HOSPITAL   (United States)

^e RABIN MEDICAL CENTER   (Israel)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^h CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Cartilage; Chondrodysplasia; COL2A1; Collagen; Stickler syndrome

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 2; PROCOLLAGEN;

ARTICLE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; STICKLER SYNDROME;

COLLAGEN; CONNECTIVE TISSUE DISEASES; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; SYNDROME;

BIKINIA LE-TESTUI;

EID: 0031763844     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:2<121::AID-AJMG6>3.0.CO;2-M     Document Type: Article

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