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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022463/
https://www.ncbi.nlm.nih.gov/pubmed/24831815
http://dx.doi.org/10.1371/journal.pgen.1004333

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