Article

De Novo Nonsense Variant in ASXL3 in a Chinese Girl Causing Bainbridge–Ropers Syndrome: A Case Report and Review of Literature

2021-08-26

Abstract excerpt

<h4>Background: </h4> Bainbridge-Ropers syndrome (BRPS, OMIM #615485) was first identified in 2013 by Bainbridge et al. and is a neurodevelopment disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by heterozygous loss-of function (LOF) variants in the additional sex combs-like 3 (ASXL3) gene which are mostly located in two mutational cluster regions (MCR...

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Literature Corpus work: 0e9b08fb-d373-5f43-b963-d71cf8e3d423
DOI: 10.21203/rs.3.rs-810120/v1

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