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

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 generali...

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Bibliographic Details
Main Authors: Gina M DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, Claudia Dall'Armi, Gilbert Di Paolo, Heather Feenstra, Nanette Silverberg, Luis Rohena, Larissa D López-Cepeda, Vaidehi Jobanputra, Katherine A Fantauzzo, Maija Kiuru, Marija Tadin-Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C Salas-Alanis, Angela M Christiano
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4022463?pdf=render