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Article

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Genomics - 1 Nov 2008

Petukhova Lynn, Sousa Edilson C, Martinez-Mir Amalia, Vitebsky Anna, Dos Santos Lina G, Shapiro Lawrence, Haynes Chad, Gordon Derek, Shimomura Yutaka, Christiano Angela M

Abstract excerpt

While there have been significant advances in understanding the genetic etiology of human hair loss over the previous decade, there remain a number of hereditary disorders for which a causative gene has yet to be identified. We studied a large, consanguineous Brazilian family that presented with woolly hair at birth that progressed to severe hypotrichosis by the age of 5, in which 6 of the 14 offspring were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18692127
DOI: 10.1016/j.ygeno.2008.06.009
PMCID: PMC3341170

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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