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When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.

Clinical dysmorphology - 1 Jan 2021

Tadros Shereen, Forde Karina, Syed Samira, Gholam Karolina, Hurst Jane

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32897901
DOI: 10.1097/MCD.0000000000000332

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

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When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.PMID 32897901Read ↗

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

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

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.Semantic proximity Read ↗

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

Rothmund-Thomson syndrome: Review of the world literatureSemantic proximity Read ↗

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

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

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

Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.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 ↗

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

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