Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS
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DOI: 10.1002/mgg3.2009
Abstract: As a clinical subtype of SWI/SNF‐related intellectual disability syndromes, Nicolaides–Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype–phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far… read more here.
Keywords: baraitser syndrome; genotype phenotype; gene; nicolaides baraitser ... See more keywords
Supernumeraries in Nicolaides–Baraitser Syndrome
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DOI: 10.1111/ipd.12309
Abstract: BACKGROUND Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few cases. NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired… read more here.
Keywords: supernumeraries nicolaides; nicolaides baraitser; baraitser syndrome;
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
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DOI: 10.1186/s12920-019-0555-y
Abstract: BackgroundNicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been… read more here.
Keywords: methylation; smarca2 variants; model; baraitser syndrome ... See more keywords