TBX5 intragenic duplication: A family with an atypical Holt-Oram syndrome phenotype

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 863-869

  Patel, Chirag ^a   Silcock, Lee ^a   McMullan, Dominic ^a   Brueton, Louise ^a   Cox, Helen ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

array CGH; congenital heart disease; duplication; Holt Oram syndrome; limb anomalies; TBX5

Indexed keywords

TRANSCRIPTION FACTOR TBX5;

ADULT; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CHROMOSOME 12Q; CLINICAL ARTICLE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; FAMILY STUDY; FEMALE; FINGER MALFORMATION; GENE DUPLICATION; GENE MUTATION; HEART ATRIUM FIBRILLATION; HEART ATRIUM FLUTTER; HOLT ORAM SYNDROME; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; INTRON; MALE; MITRAL VALVE DISEASE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RARE DISEASE; SICK SINUS SYNDROME; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; PHENOTYPE; T-BOX DOMAIN PROTEINS; UPPER EXTREMITY DEFORMITIES, CONGENITAL; YOUNG ADULT;

EID: 84864148753     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.16     Document Type: Article

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