Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.

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Bibliographic Details
Title: Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.
Authors: Aydogan C; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Kanca-Demirci D; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Halic University, Istanbul, Turkey., Gul N; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey., Poyrazoglu S; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tokat B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA., Mutlu U; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey., Ozturk O; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Yilmaz-Aydogan H; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Satman I; Istanbul Faculty of Medicine, Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul University, Istanbul, Turkey. satman@istanbul.edu.tr.
Source: Journal of endocrinological investigation [J Endocrinol Invest] 2026 Jun; Vol. 49 (6), pp. 1421-1431. Date of Electronic Publication: 2026 Feb 06.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1720-8386
DOI:10.1007/s40618-026-02821-7