Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients
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Introduction: Rubinstein-Taybi syndrome type 2 (RSTS2; OMIM #613684) is a rare autosomal dominant disorder caused by loss-of-function variants in the EP300 gene (OMIM #602700), characterized by intellectual disability, distinctiv... ...
