Identification of a HOXD13 mutation in a VACTERL patient

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3181-3185

  Garcia Barceló, Maria Mercè ^a   Wong, Kenneth Kak Yuen ^a,d   Lui, Vincent Chi Hang ^a   Yuan, Zhen Wei ^b   So, Man Ting ^a   Ngan, Elly Sau Wai ^a   Miao, Xiao Ping ^a,c   Chung, Patrick Ho Yu ^a   Khong, Pek Lan ^a   Tam, Paul Kwong Hang ^a,d  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINA MEDICAL UNIVERSITY   (China)

^c SHENZHEN CHILDREN'S HOSPITAL   (China)

^d UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

HOXD13; Sonic hedgehog; VACTERL

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ADOLESCENT; ANUS ATRESIA; ARTICLE; BASE PAIRING; CASE REPORT; CONGENITAL HEART MALFORMATION; ESOPHAGUS ATRESIA; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; HOXD13 GENE; HUMAN; KIDNEY DYSPLASIA; LIMB MALFORMATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNDROME VACTERL; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; ANUS, IMPERFORATE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ATRESIA; FEMALE; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR SEQUENCE DATA; MUTATION; SYNDROME; TRACHEOESOPHAGEAL FISTULA; TRANSCRIPTION FACTORS;

ERINACEIDAE; FISTULA;

EID: 57149100183     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32426     Document Type: Article

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