Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

BACKGROUND: To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID. METHODS: Considering the large number of ID-associated genes, we applie...

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Detalles Bibliográficos
Autores principales: Gu, Yi, Xiang, Bingwu, Zhu, Lina, Ma, Xiuwei, Chen, Xiang, Cai, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216709/
https://www.ncbi.nlm.nih.gov/pubmed/32393352
http://dx.doi.org/10.1186/s12881-020-01042-w

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