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

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

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

Kustantaja: Wiley

Julkaisuvuosi: 2021

Journal: Clinical Case Reports

Tietokannassa oleva lehden nimi: Clinical case reports

Lehden akronyymi: Clin Case Rep

Artikkelin numero: e04602

Vuosikerta: 9

Numero: 8

ISSN: 2050-0904

eISSN: 2050-0904

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

Verkko-osoite: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.4602

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

Tiivistelmä

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.

Ladattava julkaisu

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