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Article

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

European journal of medical genetics - 1 Jan 2000

Masurel-Paulet Alice, Haan Eric, Thompson Elizabeth M, Goizet Cyril, Thauvin-Robinet Christel, Tai Andrew, Kennedy Declan, Smith Greg, Khong Teck Yee, Solé Guilhem, Guerineau Elodie, Coupry Isabelle, Huet Frédéric, Robertson Stephen, Faivre Laurence

Abstract excerpt

X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding filamin A (FLNA). High phenotypic diversity, ranging from PH to otopalatodigital syndrome and frontometaphyseal dysplasia has been described in association with FLNA mutations. Extra-neurological features including cardiovascular abnormalities, coagulopathy, skeletal dysplasia and joint...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20888935
DOI: 10.1016/j.ejmg.2010.09.010

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.Semantic proximity Read ↗

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