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




AuthorsArvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana

PublisherWiley

Publication year2021

JournalClinical Case Reports

Journal name in sourceClinical case reports

Journal acronymClin Case Rep

Article numbere04602

Volume9

Issue8

ISSN2050-0904

eISSN2050-0904

DOIhttps://doi.org/10.1002/ccr3.4602

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

Self-archived copy’s web addresshttps://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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Last updated on 2024-26-11 at 21:45