Quantification of Proteus syndrome-associated lung disease

Abstract Background Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention. This retrospective study seeks to quantify...

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Hlavní autoři: Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico, Leslie G. Biesecker
Médium: Článek
Jazyk:English
Vydáno: BMC 2024-02-01
Edice:Orphanet Journal of Rare Diseases
Témata:
On-line přístup:https://doi.org/10.1186/s13023-023-03013-9