Associated Papers
"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".
Rijckmans E et al.
Acta Neurologica Belgica, 2025
Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Liu J et al.
Frontiers in Genetics, 2025
41555926 (PubMed )
Supplement: Table1.docx
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P et al.
European Journal of Medical Genetics, 2012
Familial cardiac valvulopathy due to filamin A mutation.
Bernstein JA et al.
American Journal of Medical Genetics. Part A, 2011
Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.
Kapur RP et al.
The American Journal of Surgical Pathology, 2010
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
Hehr U et al.
Journal of Medical Genetics, 2006
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