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Article

Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.

Journal of medical genetics - 1 Mar 2006

Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa J M

Abstract excerpt

BACKGROUND: The Ehlers-Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. Periventricular nodular heterotopia (PNH) is a human neuronal migration disorder characterised by seizures and conglomerates of neural cells around the lateral ventricles of the brain, caused by FLNA mutations. FLNA encodes filamin A, an actin binding protein involved in cytoskeletal organisation. The...

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Source

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Identifiers

PMID: 15994863
DOI: 10.1136/jmg.2004.029173
PMCID: PMC2563248

Genes

FLNA
CHD1
CHD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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