Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

: Arvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana

Publisher: Wiley

: 2021

: Clinical Case Reports

: Clinical case reports

: Clin Case Rep

: e04602

: 9

: 8

: 2050-0904

DOI: https://doi.org/10.1002/ccr3.4602

: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.4602

: https://research.utu.fi/converis/portal/detail/Publication/69090798

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.

Clinical Case Reports - 2021 - Arvio - Report of a novel missense mutation in the MECP2 gene in a middle-aged man with.pdf