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Article

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.

Archives of dermatological research - 1 Sept 2009

Pasternack Sandra M, Murugusundram Sundaram, Eigelshoven Sibylle, Müller Melanie, Kruse Roland, Lehmann Percy, Betz Regina C

Abstract excerpt

Hypotrichosis simplex comprises a group of non-syndromic human alopecias. Diffuse loss of hair typically starts in early childhood and progresses throughout adolescence. We and others have previously reported mutations in the P2RY5 gene and the LIPH gene as being causal factors of autosomal recessive hypotrichosis simplex with or without woolly hair. In the present study, we analyzed one Turkish family and two...

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Identifiers

PMID: 19529952
DOI: 10.1007/s00403-009-0971-5

Genes

LIPH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.PMID 19529952Read ↗

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