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Article

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

American journal of medical genetics. Part A - 30 Apr 2003

Wang Lisa L, Gannavarapu Anu, Clericuzio Carol L, Erickson Robert P, Irvine Alan D, Plon Sharon E

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Identifiers

PMID: 12673665
DOI: 10.1002/ajmg.a.10057

Genes

RECQL4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.PMID 12673665Read ↗

Clinical utility gene card for: poikiloderma with neutropenia.Semantic proximity Read ↗

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

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

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.Semantic proximity Read ↗

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

From clinical findings to the pathomechanism of poikiloderma with neutropenia.Semantic proximity Read ↗

Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.Semantic proximity Read ↗

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.Semantic proximity Read ↗

The mutation spectrum in RECQL4 diseases.Semantic proximity Read ↗

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

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

Poikiloderma with neutropenia: beginning at the end.Semantic proximity Read ↗

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