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Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.

Iranian journal of allergy, asthma, and immunology - 1 Jun 2015

Patiroglu Turkan, Akar H Haluk

Abstract excerpt

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical presentations and...

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PMID: 26546903

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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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Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.PMID 26546903Read ↗

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Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.Semantic proximity Read ↗

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.Semantic proximity Read ↗

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.Semantic proximity Read ↗

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Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.Semantic proximity Read ↗

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.Semantic proximity Read ↗

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Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.Semantic proximity Read ↗

[Mutations of C16orf57 gene have been identified in the poikiloderma-neutropenia syndrome and in a specific subset of congenital dyskeratosis with normal-length telomeres].Semantic proximity Read ↗

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