Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

BACKGROUND: MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the MED13L haploinsufficiency mutation and missense mutation were reported to be causative....

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Detalles Bibliográficos
Autores principales: Yi, Zhi, Zhang, Ying, Song, Zhenfeng, Pan, Hong, Yang, Chengqing, Li, Fei, Xue, Jiao, Qu, Zhenghai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350599/
https://www.ncbi.nlm.nih.gov/pubmed/32646507
http://dx.doi.org/10.1186/s13052-020-00847-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350599/
https://www.ncbi.nlm.nih.gov/pubmed/32646507
http://dx.doi.org/10.1186/s13052-020-00847-y

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