Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/26334
Title: Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
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Issue Date: May-2016
Citation: Mol Genet Genomic Med.2016 May;(4)3:359-66
Abstract: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses.
PMID: 27247962
URI: https://hdl.handle.net/20.500.12530/26334
Rights: openAccess
ISSN: 2324-9269
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos

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