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Article

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

European journal of human genetics : EJHG - 1 May 2016

Küry Sébastien, Mercier Sandra, Shaboodien Gasnat, Besnard Thomas, Barbarot Sébastien, Khumalo Nonhlanhla P, Mayosi Bongani M, Bézieau Stéphane

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26443268
DOI: 10.1038/ejhg.2015.205
PMCID: PMC4930101

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CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).PMID 26443268Read ↗

[Hereditary fibrosing poikiloderma with contractures, myopathy and pulmonary fibrosis: The role of mutations in FAM111B].Semantic proximity Read ↗

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.Semantic proximity Read ↗

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM 111B mutationSemantic proximity Read ↗

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.Semantic proximity Read ↗

Syndromic inherited poikiloderma due to a <i>de novo</i> mutation in <i> <scp>FAM</scp> 111B </i>Semantic proximity Read ↗

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.Semantic proximity Read ↗

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

Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.Semantic proximity Read ↗

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.Semantic proximity Read ↗

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