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This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.

This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.