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

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

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

Publisher: Wiley

Publication year: 2021

Journal: Clinical Case Reports

Journal name in source: Clinical case reports

Journal acronym: Clin Case Rep

Article number: e04602

Volume: 9

Issue: 8

ISSN: 2050-0904

eISSN: 2050-0904

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

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

Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/69090798

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.

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