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Article

Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.

BMJ case reports - 12 Apr 2022

Loft Nagel Julie, Jønch Aia Elise, Nguyen Nina T T N, Bygum Anette

Abstract excerpt

Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (FLNA) gene. FLNA-PVNH is a heterogeneous disorder, and the phenotype is associated with neurological and non-neurological features including cardiovascular, gastrointestinal, pulmonary, haematological, cutaneous and skeletal manifestations. No clear definition of the FLNA-PVNH phenotype has been...

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Identifiers

PMID: 35414575
DOI: 10.1136/bcr-2021-247268
PMCID: PMC9006829

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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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