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Article

FLNA genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.

Journal of medical genetics - 20 Mar 2025

Margot Henri, Hernandez Poblete Natalia, Angelini Chloé, Desforges Julie, Bouron Julie, Arveiler Benoit, Rooryck Caroline, Goizet Cyril, Fergelot Patricia

Abstract excerpt

BACKGROUND: FLNA loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of FLNA gene dosage anomalies and investigates genotype-phenotype correlations in a large...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39779312
DOI: 10.1136/jmg-2024-110336

Genes

FLNA
EMD

Provenance

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