Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

ConclusionsOur study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio-WES in detecting and facilitating the diagnosis of UPD.

Source: Molecular Genetics & Genomic Medicine - August 18, 2021 Category: Genetics & Stem Cells Authors: Hua Wang, Liang Huo, Yajian Wang, Weiwei Sun, Weiyue Gu Tags: CLINICAL REPORT Source Type: research