Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Berger, E., Jauss, R.-T., Ranells, J. D., Zonic, E., von Wintzingerode, L., Wilson, A., Wagner, J., Tuttle, A., Thomas-Wilson, A., Schulte, B., Rabin, R., Pappas, J., Odgis, J. A., Muthaffar, O., Mendez-Fadol, A., Lynch, M., Levy, J., Lehalle, D., Lake, N. J., … Jamra, R. A. (2024). Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders. Genetics in Medicine, 101326. https://doi.org/10.1016/j.gim.2024.101326
Authors:
Eva Berger
Robin-Tobias Jauss
Judith D Ranells
Emir Zonic
Lydia von Wintzingerode
Ashley Wilson
Johannes Wagner
Annabelle Tuttle
Amanda Thomas-Wilson
Björn Schulte
Rachel Rabin
John Pappas
Jacqueline A Odgis
Osama Muthaffar
Alejandra Mendez-Fadol
Matthew Lynch
Jonathan Levy
Daphné Lehalle
Nicole J Lake
Ilona Krey
Mariya Kozenko
Ellen Knierim
Guillaume Jouret
Vaidehi Jobanputra
Bertrand Isidor
David Hunt
Tzung-Chien Hsieh
Alexander M Holtz
Tobias B Haack
Nina B Gold
Désirée Dunstheimer
Mylène Donge
Wallid Deb
Katlin A De La Rosa Poueriet
Magdalena Danyel
John Christodoulou
Saurabh Chopra
Bert Callewaert
Andreas Busche
Lauren Brick
Bary G Bigay
Marie Arlt
Swathi S Anikar
Mohammad N Almohammal
Deanna Almanza
Amal Alhashem
Aida Bertoli-Avella
Heinrich Sticht
Rami Abou Jamra
Affiliated Authors:
Vaidehi Jobanputra
Columbia Affiliation:
Author Keywords:
trkb
blindness
obesity
transmembrane domain
tyrosine kinase domain
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2024.101326
PMID:
39540377
DOI:
10.1016/j.gim.2024.101326
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: