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;