1.
Clin Case Rep
; 6(8): 1452-1456, 2018 Aug.
Article
in English
| MEDLINE
| ID: mdl-30147881
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.