Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome
Wiley
Clinical Case Reports - 2021 - Arvio - Report of a novel missense mutation in the MECP2 gene in a middle-aged man with.pdf - 589.71 KB
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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.