Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

European Journal of Medical Genetics

Volumn 51, Issue 3, 2008, Pages 183-196

  Zechi Ceide, Roseli Maria ^a   Jesus Oliveira, Nélio Alessando ^b   Guion Almeida, Maria Leine ^a   Antunes, Luís Fernando B B ^a   Richieri Costa, Antonio ^a   Passos Bueno, Maria Rita Santos ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Institute of Biosciences   (Brazil)

Author keywords

Cleft palate; COL2A1 gene mutation; Collagen type II; Stickler syndrome

Indexed keywords

DNA; MESSENGER RNA;

ADULT; ARTICLE; CHILD; CLEFT PALATE; COMPUTER MODEL; CRANIOFACIAL MALFORMATION; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; RNA SPLICING; STICKLER SYNDROME;

ABNORMALITIES, MULTIPLE; BRAZIL; COLLAGEN TYPE II; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; SYNDROME;

EID: 43049181326     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.12.008     Document Type: Article

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