Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Borozdin
Wiktor
W
Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.
Bravo-Ferrer Acosta
Ana M
AM
Seemanova
Eva
E
Leipoldt
Michael
M
Bamshad
Michael J
MJ
Unger
Sheila
S
Kohlhase
Jürgen
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*
D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; C511875:Rbm19 protein, human; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; C106884:TBX3 protein, human