“First Report of GPAA1 Gene Mutation Causing GPIBD15 in China: Genetic Features, Clinical Characteristics, Diagnosis, and Treatment”

https://pubmed.ncbi.nlm.nih.gov/38112147

This article presents the first report of a patient with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) caused by GPAA1 gene mutation in China, highlighting the disease’s genetic features, clinical characteristics, diagnosis, and treatment.