Fragile X syndrome - insight into what we know and prospects

• Egile Nagusiak: Adam Strzoda (Egilea), Magdalena Kamińska (Egilea), Anna Strzoda (Egilea), Agata Strzoda (Egilea), Wojciech Sowiński (Egilea), Michał Zdybel (Egilea), Agata Juda (Egilea), Kornelia Rojek (Egilea)
• Formatua: Liburua
• Argitaratua: Kazimierz Wielki University, 2023-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutat...