A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

PPP2R5D-related neurodevelopmental disorder, which is mainly caused by de novo missense variants in the PPP2R5D gene, is a rare autosomal dominant genetic disorder with about 100 patients and a total of thirteen pathogenic variants known to exist globally so far. Here, we present a 24-month-old Chin...

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Detalles Bibliográficos
Autores principales: Yan, Lulu, Shen, Ru, Cao, Zongfu, Han, Chunxiao, Zhang, Yuxin, Liu, Yingwen, Yang, Xiangchun, Xie, Min, Li, Haibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895568/
https://www.ncbi.nlm.nih.gov/pubmed/33628804
http://dx.doi.org/10.1155/2021/6661860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895568/
https://www.ncbi.nlm.nih.gov/pubmed/33628804
http://dx.doi.org/10.1155/2021/6661860

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