Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

Abstract Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.

Saved in:

Bibliographic Details
Main Authors:	Maria Arvio, Maria Haanpää, Pia Pohjola, Jaana Lähdetie
Format:	Artigo
Language:	Inglês
Published:	Wiley 2021-08-01
Series:	Clinical Case Reports
Subjects:	intellectual disability MECP2 movement disorder progressive disorder
Online Access:	https://doi.org/10.1002/ccr3.4602
Tags:	Add Tag No Tags, Be the first to tag this record!

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

Similar Items