Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

American Journal of Medical Genetics

Volumn 80, Issue 1, 1998, Pages 6-11

  Ballo, R ^a   Beighton, P H ^a   Ramesar, R S ^a,b  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

COL2A1; Deafness; Multiple epiphyseal dysplasia; Myopia; New syndrome; Stickler like

Indexed keywords

ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; STICKLER SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; COLLAGEN; CONNECTIVE TISSUE DISEASES; EYE DISEASES; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; SYNDROME;

EID: 0031694525     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:1<6::AID-AJMG2>3.0.CO;2-0     Document Type: Article

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