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A Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2

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dc.contributor.authorKorkmaz, Hueseyin Anil
dc.contributor.authorOzer, Leyla
dc.contributor.authorOzkan, Behzat
dc.date.accessioned2026-10-09T21:52:55Z
dc.date.issued2023
dc.departmentYüksek İhtisas Üniversitesi
dc.description.abstractWaardenburg syndrome (WS) is known as a group of genetic conditions associated with hearing problems and pigmentary abnormalities of the hair, skin, and eyes. The association between WS and maturity-onset diabetes of the young (MODY) is rarely reported. Herein we present a 9-year-old male patient with MODY type 2 and WS whose genetic analysis revealed a known pathogenic variant i.e. c.143G>A (p.Gly48Asp)(c.1603+2T>C) in paired box gene 3.
dc.identifier.doi10.4274/buchd.galenos.2023.29863
dc.identifier.endpage141
dc.identifier.issn2822-4469
dc.identifier.issue2
dc.identifier.startpage139
dc.identifier.trdizinid1251699
dc.identifier.urihttps://doi.org/10.4274/buchd.galenos.2023.29863
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1251699
dc.identifier.urihttps://hdl.handle.net/20.500.12794/3970
dc.identifier.volume13
dc.identifier.wosWOS:001049222400009
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynak.digerEmerging Sources Citation Index (ESCI)
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofJournal of Dr Behcet Uz Childrens Hospital
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.relation.sdgGoal-03: Good Health and Well-Being
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20260922
dc.subjectWaardenburg Syndrome
dc.subjectGlucokinase Gene Mutation
dc.subjectDiabetes Mellitus
dc.titleA Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2
dc.typeArticle

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