Targeted capture sequencing in a patient with woolly hair. Homo sapiens

Woolly hair is a group of rare abnormal hair disease, which manifests sparse, short and curly hair with a woolly feeling. Autosomal recessive woolly hair (ARWH) is a type of woolly hair. The lipase H (LIPH) gene is associated with the pathogenesis of ARWH.

羊毛状毛发（Woolly hair）是一类罕见的毛发异常疾病，临床表现为毛发稀疏、短缩且卷曲，带有羊毛质感。常染色体隐性遗传性羊毛状毛发（Autosomal recessive woolly hair, ARWH）是羊毛状毛发的一种类型。脂肪酶H（Lipase H, LIPH）基因与ARWH的发病机制密切相关。