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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Main Authors: Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico, Leslie G. Biesecker
格式: Article
語言:English
出版: BMC 2024-02-01
叢編:Orphanet Journal of Rare Diseases
主題:
在線閱讀:https://doi.org/10.1186/s13023-023-03013-9