Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/26334
Full metadata record
DC FieldValueLanguage
dc.contributor.authorSuter, Aude-Annick
dc.contributor.authorItin, Peter
dc.contributor.authorHeinimann, Karl
dc.contributor.authorAhmed, Munaza
dc.contributor.authorAshraf, Tazeen
dc.contributor.authorFryssira, Helen
dc.contributor.authorKini, Usha
dc.contributor.authorLapunzina, Pablo
dc.contributor.authorMiny, Peter
dc.contributor.authorSommerlund, Mette
dc.contributor.authorSuri, Mohnish
dc.contributor.authorVaeth, Signe
dc.contributor.authorVasudevan, Pradeep
dc.contributor.authorGallati, Sabina
dc.date.accessioned2019-06-28T14:55:25Z-
dc.date.available2019-06-28T14:55:25Z-
dc.date.issued2016-05
dc.identifier.citationMol Genet Genomic Med.2016 May;(4)3:359-66
dc.identifier.issn2324-9269
dc.identifier.urihttps://hdl.handle.net/20.500.12530/26334-
dc.description.abstractPoikiloderma 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.
dc.language.isoeng
dc.rightsopenAccess-
dc.subjectPoikiloderma with neutropenia
dc.subjectRECQL4 gene
dc.subjectRothmund–Thomson Syndrome
dc.subjectUSB1 (C16orf57) gene
dc.titleRothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
dc.typeArtículo
dc.identifier.pubmedID27247962
dc.format.volume4
dc.format.page359-66
dc.identifier.journalMolecular genetics & genomic medicine
dc.identifier.doi10.1002/mgg3.209
dc.format.number3
dc.identifier.pmcPMC4867568
dc.pubmedtypeJournal Article
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos

Files in This Item:
File Description SizeFormat 
PMC4867568.pdf776.51 kBAdobe PDFThumbnail
View/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.