Article

Identification of a Novel Mutation in CTCF in a Family with MRD21

2022-10-06

Abstract excerpt

<title>Abstract</title><p>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<italic>CTCF</italic>, is a rare DD/ID-related disease. The clinical phenot...

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Literature Corpus work: 27dd1eeb-5e52-50eb-8c67-a08dc3b40c5f
DOI: 10.21203/rs.3.rs-2091600/v1

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