A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly

International Journal of Cardiology

Volumn 130, Issue 1, 2008, Pages 30-35

  Faria, Mário Henrique Girão ^a   Rabenhorst, Silvia Helena Barem ^a   Pereira, Alexandre da Costa ^b   Krieger, José Eduardo ^b  

^a CENTRO UNIVERSITÁRIO UNICHRISTUS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Atrial septal defect; Congenital heart disease; Foot anomalies; Postaxial polydactyly; TBX5 gene mutation

Indexed keywords

TRANSCRIPTION FACTOR TBX5;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; FEMALE; GENETIC HETEROGENEITY; HEART ATRIUM SEPTUM DEFECT; HOLT ORAM SYNDROME; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POSTAXIAL HEXODACTYLY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETON MALFORMATION;

FINGERS; HAND DEFORMITIES, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MUTATION, MISSENSE; T-BOX DOMAIN PROTEINS;

EID: 53549098825     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2008.06.090     Document Type: Article

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