Identification of a novel C16orf57 mutat
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Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P. Erickson; Alan D. I
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Article
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2010
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John Wiley and Sons
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English
β 204 KB
π 2 views
## Abstract Poikiloderma with Neutropenia (PN), ClericuzioβType (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 bee