Neurodevelopmental disorder with macrocephaly
Definition:
References:
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[1]. Christine Shieh, et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. [Content Brief]
[2]. Karin Weiss, et al. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016 Oct 6;99(4):934-941. [Content Brief]
[3]. 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]
[4]. 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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