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
Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation.
Goknar N et al.
Medeniyet Medical Journal, 2021
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Diagnostic strategy for inherited hypomagnesemia.
Horinouchi T et al.
Clinical and Experimental Nephrology, 2017
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
Nakayama M et al.
Pediatric Nephrology (berlin, Germany), 2010
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