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Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

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dc.contributor.authorsTuerkyilmaz, Ayberk; Turkdogan, Dilsad; Goermez, Zeliha; Ekinci, Gazanfer
dc.date.accessioned2022-03-10T15:25:34Z
dc.date.accessioned2026-01-10T18:37:57Z
dc.date.available2022-03-10T15:25:34Z
dc.date.issued2020
dc.identifier.doi10.1097/MCD.0000000000000326
dc.identifier.eissn1473-5717
dc.identifier.issn0962-8827
dc.identifier.pubmed32496272
dc.identifier.urihttps://hdl.handle.net/11424/220293
dc.identifier.wosWOS:000571103900013
dc.language.isoeng
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.relation.ispartofCLINICAL DYSMORPHOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectDE-LANGE-SYNDROME
dc.subjectMUTATIONS
dc.subjectEPILEPSY
dc.subjectSEIZURES
dc.subjectGENE
dc.titleExpansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature
dc.typereview
dspace.entity.typePublication
oaire.citation.endPage223
oaire.citation.issue4
oaire.citation.startPage217
oaire.citation.titleCLINICAL DYSMORPHOLOGY
oaire.citation.volume29

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