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References from Multisystem developmental abnormalities and insulin resistance in ADTKD ‐ HNF1B with the p. E105K variant: A clinical conundrum. Local targets link to admitted publications; unresolved targets remain external evidence.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report
10.1038/ki.2015.28 · 2015 · External reference
ISPAD Clinical Practice Consensus Guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents
10.1111/pedi.13426 · 2022 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Exon sequencing of HNF1B in Chinese patients with early‐onset diabetes
10.4093/dmj.2024.0159 · 2025 · External reference
HNF1B mutation in a patient with maturity‐onset diabetes of the young 5 and renal cysts: a case report and literature review
2020 · External reference
Maturity‐onset diabetes of the young (MODY) with HNF1B p.Glu105Lys mutation achieving significant insulin reduction on tirzepatide: a case report
10.1002/ccr3.70173 · 2025 · External reference
Genotype and phenotype analyses in pediatric patients with HNF1B mutations
10.3390/jcm9072320 · 2020 · External reference
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next‐generation sequencing technology
10.1002/mgg3.720 · 2019 · External reference
HNF1B‐associated renal and extra‐renal disease—an expanding clinical spectrum
10.1038/nrneph.2014.232 · 2015 · External reference
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor‐1β gene due to germline mosaicism
10.1210/jc.2003-031828 · 2004 · External reference
Variable expressivity of HNF1B nephropathy, from ADTKD‐HNF1B to medullary sponge kidney through tubulo‐interstitial kidney disease
10.1016/j.ekir.2020.09.042 · 2020 · External reference
HNF1B‐associated renal disease: more than renal cysts and diabetes
2022 · External reference
Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor‐1beta and ‐1alpha mutations
10.2337/diabetes.55.02.06.db05-1019 · 2006 · External reference
Identification of a gain‐of‐function mutation in the HNF‐1β gene in a Japanese family with MODY
10.1007/s125-002-8259-5 · 2002 · External reference
Lack of pancreatic body and tail in HNF1B mutation carriers
10.1111/j.1464-5491.2008.02460.x · 2008 · External reference
Growth in children with chronic kidney disease and associated risk factors for short stature
10.1590/2175-8239-jbn-2023-0203en · 2024 · External reference
