The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

ABSTRACT: In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation-present in 132 individuals in ExAC-as a very probable cause of the disease in a Bohring-Opitz syndrome patient.

SUBMITTER: Urreizti R 

PROVIDER: S-EPMC6099046 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature