TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant

We report a novel missense variant in TBX5 in a family with an atypical Holt-Oram syndrome phenotype.PMID:38336121 | DOI:10.1016/j.ejmg.2024.104920

Source: European Journal of Medical Genetics - February 9, 2024 Category: Genetics & Stem Cells Authors: Anne Kathrine M øller Nielsen Anna Maria Dehn Vibeke Hjortdal Lars Allan Larsen Source Type: research