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Article

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

American journal of medical genetics. Part A - 1 Jun 2010

Tanaka Akio, Morice-Picard Fanny, Lacombe Didier, Nagy Nikoletta, Hide Michihiro, Taïeb Alain, McGrath John

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Share to Chromosomes, Human, Pair 16
Share to DNA Mutational Analysis
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Rothmund-Thomson Syndrome

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Identifiers

PMID: 20503306
DOI: 10.1002/ajmg.a.33455

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Related research

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Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.PMID 20503306Read ↗

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

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

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

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.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 ↗

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

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.Semantic proximity Read ↗

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

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

Clericuzio-type poikiloderma with neutropenia in a patient from India.Semantic proximity Read ↗

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

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