ArticleJournal of diabetes investigation2019
Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.
Article in Journal of diabetes investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 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
- Maturity-Onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: A case report.Medicine · 2020Article
- A rare combination of MODY5 and duodenal atresia in a patient: a case report.BMC medical genetics · 2020Article
- Clinical characteristics of HNF1B-related disorders in a Japanese population.Clinical and experimental nephrology · 2019Article
- Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.Journal of diabetes investigation · 2019Article
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Authors and funding
11 authors at 1 institution in 1 country.
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Abstract
Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion, as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion. Both twins manifested hypomagnesemia and hyperuricemia, but no apparent liver dysfunction or intellectual disability. The severity of renal and pancreatic defects differed between monozygotic twins with maturity-onset diabetes of the young type 5, suggesting that the phenotypes of this condition are determined not solely by genetic factors.
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