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Article

Familial cardiac valvulopathy due to filamin A mutation.

American journal of medical genetics. Part A - 1 Sept 2011

Bernstein Jonathan A, Bernstein Daniel, Hehr Ute, Hudgins Louanne

Abstract excerpt

We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve disease is presumed to be a rare disorder, it is likely underdiagnosed. Several features of this condition may aid in its...

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Source

Identifiers

PMID: 21815255
DOI: 10.1002/ajmg.a.34132

Genes

FLNA

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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