Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Buffin-Meyer, B.; Richard, J.; Guigonis, V.; Weber, S.; König, J.; Heidet, L.; Moussaoui, N.; Vu, J.-P.; Faguer, S.; Casemayou, A.; Prakash, R.; Baudouin, V.; Hogan, J.; Alexandrou, D.; Bockenhauer, D.; Bacchetta, J.; Ranchin, B.; Pruhova, S.; Zieg, J.; Lahoche, A.; Okorn, C.; Antal-Kónya, V. [Antal, Violetta (gyermekgyógyászat), author] MTA-SE Lendület Nephrogenetikai Kutatócsoport (SU / FM / C / DP); Department of Pediatrics (SU / FM / C); Morin, D.; Becherucci, F.; Habbig, S.; Liebau, M.C.; Mauras, M.; Nijenhuis, T.; Llanas, B.; Mekahli, D.; Thumfart, J.; Tönshoff, B.; Massella, L.; Eckart, P.; Cloarec, S.; Cruz, A.; Patzer, L.; Roussey, G.; Vrillon, I.; Dunand, O.; Bessenay, L.; Taroni, F.; Zaniew, M.; Louillet, F.; Bergmann, C.; Schaefer, F.; van, Eerde A.M.; Schanstra, J.P.; Decramer, S. ✉; Ariceta, G. [Collaborator]; Benetti, E. [Collaborator]; Benz, M.R. [Collaborator]; Bjerre, A. [Collaborator]; Boudailliez, B.R. [Collaborator]; Bouts, A. [Collaborator]; Drube, J. [Collaborator]; Gjerstad, A.C. [Collaborator]; Jankauskiene, A. [Collaborator]; Jávorszky, E. [Jávorszky, Eszter (vegyészet), Collaborator] Department of Pediatrics (SU / FM / C); Jay, N. [Collaborator]; Kirschstein, M. [Collaborator]; Varda, N.M. [Collaborator]; Niel, O. [Collaborator]; Nobili, F. [Collaborator]; Pietrement, C. [Collaborator]; Ruzgiene, D. [Collaborator]; Schild, R. [Collaborator]; Staude, H. [Collaborator]; Tory, K. [Tory, Kálmán (gyermekgyógyászat...), Collaborator] Department of Pediatrics (SU / FM / C); Tsimaratos, M. [Collaborator]; Walden, U. [Collaborator]; Zappel, H. [Collaborator]; HNF1B variant study group [Collaborative Organization]

English Study Group (Journal Article) Scientific
Published: KIDNEY INTERNATIONAL REPORTS 2468-0249 2468-0249 9 (8) pp. 2514-2526 2024
  • SJR Scopus - Nephrology: Q1
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2025-04-14 09:52