Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantly de novo alterations in TAOK1 and a wide spectrum of neurod...

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Detalles Bibliográficos
Autores principales: Hunter, Jesse M., Massingham, Lauren J., Manickam, Kandamurugu, Bartholomew, Dennis, Williamson, Rachel K., Schwab, Jennifer L., Marhabaie, Mohammad, Siemon, Amy, de los Reyes, Emily, Reshmi, Shalini C., Cottrell, Catherine E., Wilson, Richard K., Koboldt, Daniel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958914/
https://www.ncbi.nlm.nih.gov/pubmed/35091509
http://dx.doi.org/10.1101/mcs.a006180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958914/
https://www.ncbi.nlm.nih.gov/pubmed/35091509
http://dx.doi.org/10.1101/mcs.a006180

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