학술논문
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
Document Type
Case Study
Source
Subject
*MISSENSE mutation
*MIDDLE-aged men
*GENETIC mutation
*SYNDROMES
*INTELLECTUAL disabilities
*MOVEMENT disorders
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Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]