Article
Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
Molecular genetics and genomics : MGG - 1 Jul 2021
Varela Débora, Varela Tatiana, Conceição Natércia, Ferreira Ângela, Marques Nuno, Silva Ana Paula, Azevedo Pedro, Pereira Salomé, Camacho Ana, de Jesus Ilídio, Cancela M Leonor
Abstract excerpt
Holt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we present the identification and functional analysis of two novel TBX5 pathogenic variants found in two individuals with HOS presenting distinct phenotypes. The individual...
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