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Updated: Jul 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

Kouko Hidaka1, Tetsuichiro Inai2, Tomoki Kosho3,4,5,6

  • 1Department of Internal Medicine, Division of Respiratory Medicine, National Organization Hospital, Kokura Medical Center, Kitakyushu City, Fukuoka Prefecture, Japan.

Respiratory Medicine Case Reports
|May 30, 2023
PubMed

Keywords:
Case reportCongenital contractural arachnodactylyElastic fiberFibrillin-2Marfan syndromePleuroparenchymal fibroelastosisReticular fiber

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