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dc.contributor.authorWang, Jiyong
dc.contributor.authorForoutan, Aidin
dc.contributor.authorRichardson, Ellen
dc.contributor.authorSkinner, Steven A.
dc.contributor.authorReilly, Jack
dc.contributor.authorGümüş, Evren
dc.date.accessioned2022-01-13T14:19:52Z
dc.date.available2022-01-13T14:19:52Z
dc.date.issued2022en_US
dc.identifier.citationWang, J., Foroutan, A., Richardson, E. et al. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-021-01018-1en_US
dc.identifier.urihttps://doi.org/10.1038/s41431-021-01018-1
dc.identifier.urihttps://hdl.handle.net/20.500.12809/9760
dc.description.abstractZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.en_US
dc.item-language.isoengen_US
dc.publisherSPRINGERNATUREen_US
dc.relation.isversionof10.1038/s41431-021-01018-1en_US
dc.item-rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLINKED MENTAL-RETARDATIONen_US
dc.titleClinical findings and a DNA methylation signature in kindreds with alterations in ZNF711en_US
dc.item-typearticleen_US
dc.contributor.departmentMÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.contributor.authorID0000-0001-9932-0730en_US
dc.contributor.institutionauthorGümüş, Evren
dc.relation.journalEUROPEAN JOURNAL OF HUMAN GENETICSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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