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Article

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

American journal of medical genetics. Part A - 1 Oct 2014

Koparir Asuman, Gezdirici Alper, Koparir Erkan, Ulucan Hakan, Yilmaz Mehmet, Erdemir Aslı, Yuksel Adnan, Ozen Mustafa

Abstract excerpt

Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of poikiloderma and permanent neutropenia. Three common recurrent mutations of related gene, USB1, were considered to be associated with three different ethnic origins. The most common recurrent mutation, c.531delA, has been detected in seven Caucasian patients in the literature. In this paper, we present review of...

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Identifiers

PMID: 25044170
DOI: 10.1002/ajmg.a.36683

Genes

USB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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