Novel TBX5 mutations in patients with Holt-Oram syndrome.
作者： Philippe Debeer , Valerie Race , Marc Gewillig , Koen Devriendt , Jean-Pierre Frijns
DOI: 10.1097/BLO.0B013E3181123FFE
关键词:
摘要: Holt-Oram syndrome (MIM #142900) is an autosomal-dominant disorder characterized by radial ray deformities of the upper limb associated with cardiac septation and/or conduction defects. The caused mutations in transcription factor TBX5. Several studies report a rather low detectio
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