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

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 only more than 80 cases have be...

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Main Authors: Xilian Zhang, Hanjiang Chen, Ying Song, Zhaoyuan Chen, Xuan Liu, Ping Rong, Rong Ma
Format: Artigo
Language:Inglês
Published: Wiley 2022-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
evolving features
genotype
Nicolaides–Baraitser syndrome
SMARCA2
Online Access:https://doi.org/10.1002/mgg3.2009
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