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Article

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

American journal of medical genetics. Part A - 1 Feb 2011

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

Abstract excerpt

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 in non-Navajo patients. C16orf57 has recently been identified as a causative gene in PN. The purpose of our study was...

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Identifiers

PMID: 21271650
DOI: 10.1002/ajmg.a.33807
PMCID: PMC3069503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.PMID 21271650Read ↗

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