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Article

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.

Molecular genetics & genomic medicine - 1 Sept 2022

Zhang Xilian, Chen Hanjiang, Song Ying, Chen Zhaoyuan, Liu Xuan, Rong Ping, Ma Rong

Abstract excerpt

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 only more than 80 cases have been reported worldwide. In this article, a new patient with a de novo mutation was followed up for 10 years; it includes the...

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Identifiers

PMID: 35811451
DOI: 10.1002/mgg3.2009
PMCID: PMC9482403

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