A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report

Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene va...

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Detalles Bibliográficos
Autores principales: Fang, Yu-Lian, Zhang, Rui-Ping, Wang, Yi-Zheng, Cao, Li-Rong, Zhang, Yu-Qin, Cai, Chun-Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812316/
https://www.ncbi.nlm.nih.gov/pubmed/31656537
http://dx.doi.org/10.3892/etm.2019.8059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812316/
https://www.ncbi.nlm.nih.gov/pubmed/31656537
http://dx.doi.org/10.3892/etm.2019.8059

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