Open AccessReport of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
Author(s) -
Arvio Maria,
Haanpää Maria,
Pohjola Pia,
Lähdetie Jaana
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4602
Subject(s) - missense mutation , intellectual disability , medicine , exome sequencing , mutation , genetics , mecp2 , gene , biology , psychiatry , phenotype
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.