부산대학교 도서관

This article discusses a case study of a 5-year-old boy with a rare condition called woolly hair nevus type 1 (WHN). WHN is characterized by limited areas on the scalp displaying coiled, curly, and hypopigmented hair. The study identified a heterozygous mutation on the HRAS gene, specifically the p.Ala59Thr mutation, which is classified as likely pathogenic. This mutation is associated with mild activation of HRAS and is believed to be responsible for the specific phenotype of WHN. The study highlights the need for further research to understand the molecular pathways affected by HRAS mutations and their relationship with WHN and other conditions. [Extracted from the article]