Identification of a Novel C16orf57 Mutation in Athabaskan Patients with Poikiloderma with Neutropenia

Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also been described i...

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Detalhes bibliográficos
Main Authors: Clericuzio, Carol, Harutyunyan, Karine, Jin, Weidong, Erickson, Robert P., Irvine, Alan D., McLean, W.H. Irwin, Wen, Yaran, Bagatell, Rochelle, Griffin, Thomas A., Shwayder, Tor A., Plon, Sharon E., Wang, Lisa L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3069503/
https://ncbi.nlm.nih.gov/pubmed/21271650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33807
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