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

Introduction: Hepatocyte nuclear factor 1-beta (HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associ...

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Principais autores:	Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, MD, PhD, Elisa Benetti, MD, PhD, Marcus R. Benz, MD, Anna Bjerre, MD, PhD, Bernard R. Boudailliez, MD, Antonia Bouts, MD, PhD, Jens Drube, Ann Christin Gjerstad, MD, PhD, Augustina Jankauskiene, MD, PhD, Eszter Jávorszky, PhD, Nadine Jay, MD, Martin Kirschstein, MD, PhD, Nataša Marčun Varda, MD, PhD, Olivier Niel, MD, PhD, François Nobili, MD, Christine Pietrement, MD, PhD, Dovile Ruzgiene, MD, Raphael Schild, MD, Hagen Staude, MD, Kálmán Tory, MD, PhD, Michel Tsimaratos, MD, PhD, Ulrike Walden, MD, Hildegard Zappel, MD
格式:	Artigo
語言:	Inglês
出版:	Elsevier 2024-08-01
叢編:	Kidney International Reports
主題:	chronic kidney disease genotype-phenotype correlation HNF1B disease outcome
在線閱讀:	http://www.sciencedirect.com/science/article/pii/S2468024924017157
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