Snijders Blok-Campeau syndrome
Definition:
Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease. CHD3 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.
References:
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[1]. Lot Snijders Blok, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. [Content Brief]
[2]. Tyler Mark Pierson, et al. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. [Content Brief]
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