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

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 report...

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Detalles Bibliográficos
Autores principales: Zhang, Xilian, Chen, Hanjiang, Song, Ying, Chen, Zhaoyuan, Liu, Xuan, Rong, Ping, Ma, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482403/
https://www.ncbi.nlm.nih.gov/pubmed/35811451
http://dx.doi.org/10.1002/mgg3.2009

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