ArticleClinical diabetes and endocrinology2020
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Article in Clinical diabetes and endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.Frontiers in endocrinology · 2022Pooled it
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.Frontiers in endocrinology · 2026Article
- Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.The Medical journal of Australia · 2025Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.Journal of pediatric endocrinology & metabolism : JPEM · 2024Article
- A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion ofInternational journal of molecular sciences · 2024Article
- Precision treatment of beta-cell monogenic diabetes: a systematic review.Communications medicine · 2024Article
- Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.medRxiv : the preprint server for health sciences · 2023Article
- Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.Diabetology & metabolic syndrome · 2023Article
- HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia.BMJ case reports · 2023Article
- Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis.Frontiers in endocrinology · 2023Article
- When Sugar Reaches the Liver: Phenotypes of Patients with Diabetes and NAFLD.Journal of clinical medicine · 2022Review
- Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.Journal of diabetes investigation · 2022Article
- Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.BMC endocrine disorders · 2022Article
- Genotype-phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetes.Acta diabetologica · 2022Article
- Association of simple renal cysts with metabolic syndrome in adults.Frontiers in public health · 2022Article
- Article
- The β Cell in Diabetes: Integrating Biomarkers With Functional Measures.Endocrine reviews · 2021Review
- Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.The American journal of case reports · 2021Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiabetes mellitus with autosomal dominant inheritance, such as maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. MODY is a type of monogenic diabetes mellitus in which multiple genetic variants may cause an alteration to the functioning of beta cells. The three most known forms of MODY are caused by modifications to the CASE PRESENTATION: We present the clinical case of a 15 year-old patient with a family history of diabetes mellitus and a classical MODY type 5 (MODY5) phenotype involving the pancreas and kidney, with a novel, unreported mutation in the
conclusionsMODY5 is characterised by a mutation in the GRAPHICAL ABSTRACT:
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