Article
Molecular genetic and ocular findings in patients with holt-oram syndrome.
Ophthalmic genetics - 1 Mar 2005
Gruenauer-Kloevekorn Claudia, Reichel Martin B, Duncker G I W, Froster Ursula G
Abstract excerpt
PURPOSE: The autosomal dominant Holt-Oram syndrome (HOS) is characterized by upper limb and cardiac septal defects. Mutations of the TBX5 gene have been identified as the underlying gene defect in HOS. Embryonic expression of TBX5 has been found in the human retina. This is the first report of ocular findings in two unrelated families with mutations in the TBX5 gene. METHODS: Six living persons affected with HOS...
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