Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Berger, Eva; Jauss, Robin-Tobias; Ranells, Judith D.; Zonic, Emir; von Wintzingerode, Lydia; Wilson, Ashley; Wagner, Johannes; Tuttle, Annabelle; Thomas-Wilson, Amanda; Schulte, Bjoern; Rabin, Rachel; Pappas, John; Odgis, Jacqueline A.; Muthaffar, Osama; Mendez-Fadol, Alejandra; Lynch, Matthew; Levy, Jonathan; Lehalle, Daphne; Lake, Nicole J.; Krey, Ilona; Kozenko, Mariya; Knierim, Ellen; Jouret, Guillaume; Jobanputra, Vaidehi; Isidor, Bertrand; Hunt, David; Hsieh, Tzung-Chien; Holtz, Alexander M.; Haack, Tobias B.; Gold, Nina B.; Dunstheimer, Desiree; Donge, Mylene; Deb, Wallid; Poueriet, Katlin A. De La Rosa; Danyel, Magdalena; Christodoulou, John; Chopra, Saurabh; Callewaert, Bert; Busche, Andreas; Brick, Lauren; Bigay, Bary G.; Arlt, Marie; Anikar, Swathi S.; Almohammal, Mohammad N.; Almanza, Deanna; Alhashem, Amal; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Autor(en):

Berger, Eva; Jauss, Robin-Tobias; Ranells, Judith D.; Zonic, Emir; von Wintzingerode, Lydia; Wilson, Ashley; Wagner, Johannes; Tuttle, Annabelle; Thomas-Wilson, Amanda; Schulte, Bjoern; Rabin, Rachel; Pappas, John; Odgis, Jacqueline A.; Muthaffar, Osama; Mendez-Fadol, Alejandra; Lynch, Matthew; Levy, Jonathan; Lehalle, Daphne; Lake, Nicole J.; Krey, Ilona; Kozenko, Mariya; Knierim, Ellen; Jouret, Guillaume; Jobanputra, Vaidehi; Isidor, Bertrand; Hunt, David; Hsieh, Tzung-Chien; Holtz, Alexander M.; Haack, Tobias B.; Gold, Nina B.; Dunstheimer, Desiree; Donge, Mylene; Deb, Wallid; Poueriet, Katlin A. De La Rosa; Danyel, Magdalena; Christodoulou, John; Chopra, Saurabh; Callewaert, Bert; Busche, Andreas; Brick, Lauren; Bigay, Bary G.; Arlt, Marie; Anikar, Swathi S.; Almohammal, Mohammad N.; Almanza, Deanna; Alhashem, Amal; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami

Tübinger Autor(en):

Haack, Tobias

Erschienen in:

Genetics in Medicine (2025), Bd. 27 (5), Article 101326

Verlagsangabe:

New York : Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2024.101326

ISSN:

1098-3600