Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. Ascertained through GeneMatcher we identified el...

Descripción completa

Detalles Bibliográficos
Autores principales: Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Mor, Evyatar, Tzvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Jeong, Won Chan, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Elpeleg, Orly, Gordon, Chris, Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10327195/
https://www.ncbi.nlm.nih.gov/pubmed/37425688
http://dx.doi.org/10.1101/2023.06.19.23291425

Ejemplares similares

Ejemplares similares