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Article

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

PLoS genetics - 1 Jan 2014

DeStefano Gina M, Kurban Mazen, Anyane-Yeboa Kwame, Dall'Armi Claudia, Di Paolo Gilbert, Feenstra Heather, Silverberg Nanette, Rohena Luis, López-Cepeda Larissa D, Jobanputra Vaidehi, Fantauzzo Katherine A, Kiuru Maija, Tadin-Strapps Marija, Sobrino Antonio, Vitebsky Anna, Warburton Dorothy, Levy Brynn, Salas-Alanis Julio C, Christiano Angela M

Abstract excerpt

Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital gener...

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Source

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Identifiers

PMID: 24831815
DOI: 10.1371/journal.pgen.1004333
PMCID: PMC4022463

Genes

ABCA5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24831815-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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