The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1-Reference-Cited by-同舟云学术

The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Published:2003-01 Issue:1 Volume:5 Page:21-27
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Liberfarb Ruth M.,Levy Howard P.,Rose Peter S.,Wilkin Douglas J.,Davis Joie,Balog Joan Z.,Griffith Andrew J.,Szymko-Bennett Yvonne M.,Johnston Jennifer J.,Francomano Clair A.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference56 articles.

1. Hereditary progressive arthroophthalmopathy, II: Additional observations, a hearing defect, and a report of a similar case;Stickler;Mayo Clin Proc,1967

2. The Stickler syndrome (hereditary arthroophthalmopathy);Hermann;Birth Defects Orig Artic Ser,1975

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