Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing.
Yu QX et al.
Molecular Syndromology, 2023
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.
Mateus JC et al.
Clinical Diabetes and Endocrinology, 2020
32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H et al.
Prenatal Diagnosis, 2016
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
Body-Bechou D et al.
Prenatal Diagnosis, 2014
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Madariaga L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Heidet L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
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