A1 Refereed original research article in a scientific journal
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
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.
Downloadable publication This is an electronic reprint of the original article. |