De novo variants in WDR45 underlie beta ‐propeller protein‐associated neurodegeneration in five independent families

ConclusionOur study reports four patients with new variants inWDR45, which expands the mutation spectrum ofWDR45. In addition, our findings provide an early and precise diagnosis basis of BPAN, which is helpful for accurate genetic counseling and prenatal diagnosis.

Source: Molecular Genetics & Genomic Medicine - October 10, 2020 Category: Genetics & Stem Cells Authors: Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu Tags: ORIGINAL ARTICLE Source Type: research