Associated Papers
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U et al.
Plos One, 2022
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C et al.
Orphanet Journal of Rare Diseases, 2021
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Cannaerts E et al.
Bmc Medical Genetics, 2018
Select a paper to view details