13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.
210 citations
,
February 2008 in “Nature genetics” This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
July 2025 in “Frontiers in Medicine” 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.