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

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

Abstract 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 ca...

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Bibliographic Details
Main Authors: Zhi Yi, Ying Zhang, Zhenfeng Song, Hong Pan, Chengqing Yang, Fei Li, Jiao Xue, Zhenghai Qu
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Italian Journal of Pediatrics
Subjects:
MED13L
Missense mutation
Intellectual disability
Speech impairment
Online Access:http://link.springer.com/article/10.1186/s13052-020-00847-y

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