Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency

De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, ...

Source: International Journal of Pediatric Endocrinology - August 4, 2017 Category: Endocrinology Authors: Dinesh Giri, Daniel Rigden, Mohammed Didi, Matthew Peak, Paul McNamara and Senthil Senniappan Tags: Case report Source Type: research