Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report

Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of V...

Source: BMC Neurology - October 4, 2023 Category: Neurology Authors: Xi Chen, Piao Zhang, Lijuan Wang and Yuhu Zhang Tags: Case Report Source Type: research