Stickler syndrome: Clinical characteristics and diagnostic criteria

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 199-207

  Rose, Peter S ^a   Levy, Howard P ^b   Liberfarb, Ruth M ^c,d   Davis, Joie ^e   Szymko Bennett, Y ^f   Rubin, Benjamin I ^g   Tsilou, Ekaterini ^g   Griffith, Andrew J ^f   Francomano, Clair A ^d  

^a MAYO CLINIC   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^g NATIONAL EYE INSTITUTE   (United States)

Author keywords

Diagnostic criteria; Nosology; Stickler syndrome

Indexed keywords

COLLAGEN TYPE 2;

ADOLESCENT; ADULT; AGED; ARTICLE; AUDITORY SYSTEM; CLINICAL FEATURE; COL2A1 GENE; DISEASE CLASSIFICATION; EYE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCULOSKELETAL SYSTEM; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; STICKLER SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE II; FACIES; FEMALE; GENETIC DISEASES, INBORN; HEARING; HUMANS; MALE; MIDDLE AGED; MUTATION; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 25644433629     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30955     Document Type: Article

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