Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
39156164 (PubMed )
Supplement: mmc1.pdf
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
Grand K et al.
Journal of the American Society of Nephrology : Jasn, 2023
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
[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].
Rigothier C et al.
Nephrologie & Therapeutique, 2009
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