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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FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13 /AGT1 IN HUMAN CYSTINURIA
Schönauer, Ria, Seidel, Anna, Pöschla, Linda, Hantmann, Elena, Bekri, Soumeya, Knebelmann, Bertrand, Sayer, John, Ohgaki, Ryuichi, Halbritter, Jan
Published in Nephrology, dialysis, transplantation (29.05.2021)
Published in Nephrology, dialysis, transplantation (29.05.2021)
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