A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities

About 31 individuals with CLTC variants have been reported worldwide, and all reported individuals have motor and mental retardation. CLTC is known to lead to intellectual developmental disorder, autosomal domina...

Source: BMC Medical Genomics - December 18, 2023 Category: Genetics & Stem Cells Authors: Chen Cheng, Fan Yang, Sheng Zhao and Xinlin Chen Tags: Research Source Type: research