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Article

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.

Human mutation - 1 May 2020

Wade Emma M, Halliday Benjamin J, Jenkins Zandra A, O'Neill Adam C, Robertson Stephen P

Abstract excerpt

The X-linked filaminopathies represent a diverse group of clinical conditions, all caused by variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein, filamin A that has multiple roles during embryonic development including cell migration, mechanical sensing, and cell signaling. In this review, we discuss the 10 distinct X-linked filaminopathy conditions that between them affect almost...

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

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Identifiers

PMID: 32108395
DOI: 10.1002/humu.24002

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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