Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome

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dc.authoridgürsoy, semra/0000-0002-6795-3012
dc.authorscopusid57078208100
dc.authorscopusid35200763900
dc.authorscopusid56567736400
dc.authorscopusid7003483539
dc.authorwosidgürsoy, semra/AAY-6289-2021
dc.contributor.authorGursoy, Semra
dc.contributor.authorHazan, Filiz
dc.contributor.authorOzturk, Tulay
dc.contributor.authorAtes, Halil
dc.date.accessioned2023-01-12T20:03:14Z
dc.date.available2023-01-12T20:03:14Z
dc.date.issued2020
dc.departmentN/A/Departmenten_US
dc.description.abstractMyhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of this disorder include distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, brachydactyly, and skeletal anomalies. Gain-of-function mutations in the SMAD4 gene are responsible for this syndrome. Herein, we present a 9.6-year-old Turkish girl with molecularly confirmed Myhre syndrome who had novel findings including bilateral Axenfield Rieger anomaly with secondary glaucoma and bilateral enlarged vestibular aqueducts.en_US
dc.identifier.doi10.1159/000504829
dc.identifier.endpage343en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue6en_US
dc.identifier.pmid32021609en_US
dc.identifier.scopus2-s2.0-85076812199en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage339en_US
dc.identifier.urihttps://doi.org/10.1159/000504829
dc.identifier.urihttps://hdl.handle.net/11454/77674
dc.identifier.volume10en_US
dc.identifier.wosWOS:000508845700008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAxenfield Rieger anomalyen_US
dc.subjectEnlarged vestibular aqueducten_US
dc.subjectGlaucomaen_US
dc.subjectMyhre syndromeen_US
dc.titleNovel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndromeen_US
dc.typeArticleen_US

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