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Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients

✍ Scribed by Wang, Lisa L. ;Gannavarapu, Anu ;Clericuzio, Carol L. ;Erickson, Robert P. ;Irvine, Alan D. ;Plon, Sharon E.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
151 KB
Volume
118A
Category
Article
ISSN
0148-7299

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## Abstract 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 bee