Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
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ABSTRACT:
SUBMITTER: Arvio M
PROVIDER: S-EPMC8380086 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
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Report of a novel missense mutation in the <i>MECP2</i> gene in a middle-aged man with intellectual disability syndrome.
Arvio Maria M Haanpää Maria M Pohjola Pia P Lähdetie Jaana J
Clinical case reports 20210821 8
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. ...[more]
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