Contiguous hemizygous deletion of TBX5 TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes [2]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 17, 2006, Pages 1880-1886

  Borozdin, Wiktor ^a   Bravo Ferrer Acosta, Ana M ^a   Seemanova, Eva ^b   Leipoldt, Michael ^a   Bamshad, Michael J ^c   Unger, Sheila ^a   Kohlhase, Jürgen ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHILD; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HAND RADIOGRAPHY; HEMIZYGOSITY; HOLT ORAM SYNDROME; HUMAN; LETTER; LIMB DEVELOPMENT; LIMB MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; RBM19 GENE; REAL TIME POLYMERASE CHAIN REACTION; TBX3 GENE; TBX5 GENE; TRANSCRIPTION REGULATION; ULNAR MAMMMARY SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; GENE DELETION; HEART DEFECTS, CONGENITAL; HUMANS; MALE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; RNA-BINDING PROTEINS; SYNDROME; T-BOX DOMAIN PROTEINS; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 33748307432     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31340     Document Type: Letter

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