Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission

BACKGROUND: Nicolaides–Baraitser syndrome (NCBRS) is a severe neurodevelopmental disorder with multiple abnormalities. To date, all pathogenic variants in SMARCA2 causing NCBRS are de novo and most are missense variants located in the ATPase domain of SMARCA2 protein. METHODS: In this study, a famil...

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Detalles Bibliográficos
Autores principales: Pan, Nina, Chen, Songchang, Cai, Xiaoqiang, Li, Jianli, Yu, Tao, Huang, He‐feng, Zhang, Jinglan, Xu, Chenming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457699/
https://www.ncbi.nlm.nih.gov/pubmed/34296532
http://dx.doi.org/10.1002/mgg3.1763

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457699/
https://www.ncbi.nlm.nih.gov/pubmed/34296532
http://dx.doi.org/10.1002/mgg3.1763

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