Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction

Jie Liu1,2, Xin Pan1,2, Lina Qiao1,2

  • 1Department of Pediatric Intensive Care Unit, West China Second Universal Hospital, Sichuan University, Chengdu, China.

Frontiers in Genetics
|January 20, 2026
PubMed
Summary

Filamin A (FLNA) mutations cause severe multisystem disorders. This case highlights a novel nonsense mutation linked to fatal complications, emphasizing the need for comprehensive monitoring in FLNA deficiency.

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