De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder

De novo and inherited loss-of-function variants in TLK2: clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two af...

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Bibliographic Details
Main Authors:	Reijnders, M, Miller, K, Alvi, M, Calpena, E, Koelling, N, McGowan, S, Twigg, S, Nellaker, C, Wilkie, A, al., E
Format:	Journal article
Published:	Cell Press 2018

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