Article

Neurobehavioral profile of individuals with pathogenic variants in CHD3

2025-02-14

Abstract excerpt

<title>Abstract</title> <p>Snijders Blok-Campeau syndrome (SNIBCPS), a neurodevelopmental disorder first described in 2018, is caused by heterozygous pathogenic variants in CHD3. Its encoded protein plays a crucial role in the development of the nervous system of embryos. While phenotypic traits have been broadly defined (i.e. global neurodevelopmental delays such as intellectual disabilities and delayed speech a...

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Literature Corpus work: e483f3d5-1fcc-5c7f-99fb-f5c55994a339
DOI: 10.21203/rs.3.rs-5968821/v1

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