부산대학교 도서관

This article, published in the journal Neuropediatrics, explores the genotype-phenotype spectrum of SNX14-associated movement disorders. SNX14 is a protein involved in vesicular tethering and trafficking in cells. The study collected clinical and imaging data from 62 patients with biallelic SNX14 variants, including 22 previously unreported cases. The findings reveal a wide clinical spectrum of symptoms, including ataxia, global neurodevelopmental delay, and skeletal abnormalities. The study also identifies novel phenotypes with movement disorders and provides important information for genetic counseling and support for patients and families. [Extracted from the article]