Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
Clin Case Rep
; 9(8): e04602, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-34457282
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.
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2021
Tipo de documento:
Article