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Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM. DeStefano GM, et al. Among authors: fantauzzo ka. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5. doi: 10.1073/pnas.1216412110. Epub 2013 Apr 19. Proc Natl Acad Sci U S A. 2013. PMID: 23603273 Free PMC article.
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM. DeStefano GM, et al. Among authors: fantauzzo ka. PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014. PLoS Genet. 2014. PMID: 24831815 Free PMC article.
24 results