Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

BACKGROUND: The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism s...

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Detalles Bibliográficos
Autores principales: Villamor-Payà, Marina, Sanchiz-Calvo, María, Smak, Jordann, Pais, Lynn, Sud, Malika, Shankavaram, Uma, Lovgren, Alysia Kern, Austin-Tse, Christina, Ganesh, Vijay S, Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Palenzuela, Lluís, VanNoy, Grace, O’Donnell-Luria, Anne, Stracker, Travis H.
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/PMC10473813/
https://www.ncbi.nlm.nih.gov/pubmed/37662408
http://dx.doi.org/10.1101/2023.08.22.23294267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473813/
https://www.ncbi.nlm.nih.gov/pubmed/37662408
http://dx.doi.org/10.1101/2023.08.22.23294267

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