Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome
Arvio Maria; Haanpää Maria; Lähdetie Jaana; Pohjola Pia
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome
Arvio Maria
Haanpää Maria
Lähdetie Jaana
Pohjola Pia
Wiley
Julkaisun pysyvä osoite on:
https://urn.fi/URN:NBN:fi-fe2022021519210
https://urn.fi/URN:NBN:fi-fe2022021519210
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.
Kokoelmat
- Rinnakkaistallenteet [19207]