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Article

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.

American journal of medical genetics. Part A - 1 Jun 2026

Becker Mareike, Koehler Lisa M, Hoeger Peter H

Abstract excerpt

Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by poikiloderma, neutropenia, and recurrent infections. We present a patient with PN carrying a novel homozygous pathogenic variant in the USB1 gene (c.547delC, p.Leu183Trpfs82*), and reviewed 90 PN cases reported since 1991 (including one new case) in order to assess genotype-phenotype correlations. Early symptoms included...

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Identifiers

PMID: 41674207
DOI: 10.1002/ajmg.a.70082

Genes

USB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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