Article
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
European journal of human genetics : EJHG - 1 Nov 2021
Engwerda Aafke, Leenders Erika K S M, Frentz Barbara, Terhal Paulien A, Löhner Katharina, de Vries Bert B A, Dijkhuizen Trijnie, Vos Yvonne J, Rinne Tuula, van den Berg Maarten P, Roofthooft Marc T R, Deelen Patrick, van Ravenswaaij-Arts Conny M A, Kerstjens-Frederikse Wilhelmina S
Abstract excerpt
Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnormalities and a variable degree of developmental delay, have only been mentioned occasionally in literature and thus far not linked to TAB2. In a large-scale, social...
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