Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Genetics and Molecular Biology

Volumn 38, Issue 1, 2015, Pages 14-20

  Mattos, Eduardo P ^a,b   Magalhães, José Antônio A ^b   Leite, Júlio César L ^a   Félix, Temis Maria ^a   Todeschini, Luiz Alberto ^b   Cavalcanti, Denise P ^c   Schüler Faccini, Lavinia ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Campomelic dysplasia; Osteochondrodysplasias; Prenatal diagnosis; Skeletal dysplasia; SOX9

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ARTICLE; BRAZILIAN; CAMPOMELIC DYSPLASIA; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ACTIVITY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HUMAN; INTRON; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; SEQUENCE ANALYSIS; SOX9 GENE;

EID: 84930027199     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-475738120140147     Document Type: Article

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