Article
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harbor molecular case studies - 1 Feb 2022
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
Abstract excerpt
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 neurodevelopmental abnormalities. Here, we report four patients with novel pathogenic TAOK1 variants identified by...
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