De novo mutation and skewed X‐inactivation in girl with BCAP31 ‐related syndrome
Abstract
Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>A), mutations of which caused the X-linked recessive severe neurologic disorder deafness, dystonia, and cerebral hypomyelination. Reverse transcription-polymerase chain reaction of the patient's...
Paper Details
Title
De novo mutation and skewed X‐inactivation in girl with BCAP31 ‐related syndrome
Published Date
Jul 22, 2020
Journal
Volume
41
Issue
10
Pages
1775 - 1782
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