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Article

A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.

Congenital anomalies - 1 Jan 2026

Uchida Noboru, Ohara Osamu, Yukisawa Seigo, Takahashi Tsutomu

Abstract excerpt

X-linked cardiac valvular dysplasia (XCVD) has been associated with missense or in-frame deletion variants in FLNA. We report a Japanese family with cardiac valvular dysplasia. The proband was diagnosed with multiple valve dysplasia at a primary school health checkup. He also exhibited skin hyperextensibility and joint hypermobility. His younger monozygotic twin brothers were diagnosed with multiple valve...

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Source

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Identifiers

PMID: 41457528
DOI: 10.1002/cga.70034
PMCID: PMC13422755

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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