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Case report: Filamin A mutation lung disease recognized in an 11-year-old child.

Pediatric pulmonology - 1 Jan 2023

West Tahira, Williamson Nikita, Akhter Javeed

Abstract excerpt

The loss of function (LOF) due to mutations in the Filamin A (FLNA) gene may result in abnormality of the FLNA protein. Of the many clinical syndromes, this condition may produce chronic lung disease, which usually presents and is diagnosed in the infant/toddler age group. Its clinical pattern may mimic broncho-pulmonary dysplasia. It is part of the entities included in childhood interstitial lung disease group...

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PMID: 36174535
DOI: 10.1002/ppul.26156

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