Abstract:Background
Developmental delay (DD) and intellectual disability (ID) represent one of the biggest medical and social challenges in our society with a prevalence of 1 ~ 3% worldwide. Currently, at least 50% of DD/ID cases remained unexplained. Mental retardation, autosomal dominant 21 (MRD21), caused by mutations in CTCF, is a rare DD/ID-related disease. The clinical phenotypes of MRD21 are highly variable but are not considered sufficiently distinct to be clinically recognizable. To date, only 37 pathogenic/l… Show more
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