ZTTK syndrome
Definition:
References:
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[1]. Jung-Hyun Kim, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. [Content Brief]
[2]. Mari J Tokita, et al. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 Sep 1;99(3):720-727. [Content Brief]
[3]. Toshiki Takenouchi, et al. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet A. 2016 Oct;170(10):2587-90. [Content Brief]
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