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.

SUBMITTER: Arvio M 

PROVIDER: S-EPMC8380086 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature