Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference14 articles.
1. Nicolaides–Baraitser syndrome: delineation of the phenotype;Sousa;Am J Med Genet A,2009
2. The Coffin–Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases;Schrier;Am J Med Genet A,2012
3. A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling;Wieczorek;Hum Mol Genet,2013
4. Heterozygous missense mutations in SMARCA2 cause Nicolaides–Baraitser syndrome;Van Houdt;Nat Genet,2012
5. From neural development to cognition: unexpected roles for chromatin;Ronan;Nat Rev Genet,2013
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3. Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome;Ophthalmic Genetics;2022-06-27
4. SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides–Baraitser's Syndrome: Follow-up Study;Journal of Pediatric Genetics;2022-01-06
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