Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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Pathogenic PHIP Variants are Variably Associated With CAKUT
de Fallois, Jonathan, Sieckmann, Tobias, Schönauer, Ria, Petzold, Friederike, Münch, Johannes, Pauly, Melissa, Vasileiou, Georgia, Findeisen, Christin, Kampmeier, Antje, Kuechler, Alma, Reis, André, Decker, Eva, Bergmann, Carsten, Platzer, Konrad, Tasic, Velibor, Kirschner, Karin Michaela, Shril, Shirlee, Hildebrandt, Friedhelm, Chung, Wendy K., Halbritter, Jan
Published in Kidney international reports (01.08.2024)
Published in Kidney international reports (01.08.2024)
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