학술논문
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome.
Document Type
Case Study
Author
Source
Subject
*INTELLECTUAL disabilities
*GENETIC mutation
*BOYS
*ELECTROENCEPHALOGRAPHY
*TRACHEOTOMY
*GENETICS
*DISEASES
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Language
ISSN
2050-0904
Abstract
Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]