Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.

Pediatric pulmonology(2023)

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Abstract
Our report extends the phenotype of FGF10-related disorders to early onset chILD with progressive interstitial lung fibrosis and PH. Therefore, FGF10-related disorder should be considered even without previously described syndromic stigmata in children with postnatal respiratory distress, not only when leading to death in the neonatal period but also in case of persistent respiratory complaints and PH.
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Key words
early onset,childhood
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