Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

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dc.contributor.authorArvio Maria
dc.contributor.authorHaanpää Maria
dc.contributor.authorPohjola Pia
dc.contributor.authorLähdetie Jaana
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=lastentautioppi|en=Paediatrics and Adolescent Medicine|
dc.contributor.organizationfi=tyks, vsshp|en=tyks, varha|
dc.contributor.organizationfi=yleislääketiede|en=General Practice|
dc.contributor.organization-code1.2.246.10.2458963.20.77952289591
dc.contributor.organization-code2607100
dc.contributor.organization-code2607313
dc.contributor.organization-code2607328
dc.converis.publication-id69090798
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/69090798
dc.date.accessioned2022-10-28T13:31:29Z
dc.date.available2022-10-28T13:31:29Z
dc.description.abstractExome sequencing revealed the cause of our 35-year-old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.
dc.identifier.eissn2050-0904
dc.identifier.jour-issn2050-0904
dc.identifier.olddbid182673
dc.identifier.oldhandle10024/165767
dc.identifier.urihttps://www.utupub.fi/handle/11111/40016
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/10.1002/ccr3.4602
dc.identifier.urnURN:NBN:fi-fe2022021519210
dc.language.isoen
dc.okm.affiliatedauthorArvio, Maria
dc.okm.affiliatedauthorHaanpää, Maria
dc.okm.affiliatedauthorPohjola, Pia
dc.okm.affiliatedauthorLähdetie, Jaana
dc.okm.affiliatedauthorDataimport, tyks, vsshp
dc.okm.discipline3111 Biomedicineen_GB
dc.okm.discipline3111 Biolääketieteetfi_FI
dc.okm.internationalcopublicationnot an international co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherWiley
dc.publisher.countryUnited Kingdomen_GB
dc.publisher.countryBritanniafi_FI
dc.publisher.country-codeGB
dc.relation.articlenumbere04602
dc.relation.doi10.1002/ccr3.4602
dc.relation.ispartofjournalClinical Case Reports
dc.relation.issue8
dc.relation.volume9
dc.source.identifierhttps://www.utupub.fi/handle/10024/165767
dc.titleReport of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome
dc.year.issued2021

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