Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
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Published:2023-06
Issue:6
Volume:110
Page:998-1007
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
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 JanORCID
Subject
Genetics (clinical),Genetics
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