Article
Neurobehavioral profile of individuals with pathogenic variants in CHD3.
European journal of human genetics : EJHG - 1 Oct 2025
Ionescu Anca, Mazur-Lainé Emmanuelle, Proteau-Lemieux Mélodie, Knoth Inga S, Vachon Keely, Whitlock Kerri, Biag Hazel Maridith Barlanhan, Rabouhi Nazim, Van Heesbeen Hendrikus J, Jacquemont Sébastien, Hessl David, Abbeduto Leonard, Anagnostou Evdokia, Bolduc François, Hagerman Randi J, Campeau Philippe M, Lippé Sarah
Abstract excerpt
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 acquisition, and physical...
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