Associated Papers
Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
Yang L et al.
Bmc Pediatrics, 2023
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 variants associated with disorders of platelet number or function.
Vassallo P et al.
Platelets, 2020
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Chen MH et al.
American Journal of Medical Genetics. Part A, 2018
Germline mosaicism in X-linked periventricular nodular heterotopia.
LaPointe MM et al.
Bmc Neurology, 2014
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E et al.
Brain : a Journal of Neurology, 2006
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