Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship

doi:10.4274/jcrpe.galenos.2024.2023-10-16

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Article

Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship

Journal of clinical research in pediatric endocrinology - 5 Sept 2024

Özsu Elif, Çetinkaya Semra, Bolu Semih, Hatipoğlu Nihal, Savaş Erdeve Şenay, Evliyaoğlu Olcay, Baş Firdevs, Çayır Atilla, Dündar İsmail, Akbaş Emine Demet, Uçaktürk Seyid Ahmet, Berberoğlu Merih, Şıklar Zeynep, Özalkak Şervan, Muratoğlu Şahin Nursel, Keskin Melikşah, Şiraz Ülkü Gül, Turan Hande, Öztürk Ayşe Pınar, Mengen Eda, Sağsak Elif, Dursun Fatma, Akyürek Nesibe, Odabaşı Güneş Sevinç, Aycan Zehra

Abstract excerpt

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation...

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PMID: 38665000
DOI: 10.4274/jcrpe.galenos.2024.2023-10-16
PMCID: PMC11590772

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