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Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease
Pediatric Allergy, Immunology, and Pulmonology ( IF 0.9 ) Pub Date : 2021-03-17 , DOI: 10.1089/ped.2020.1280 Amit S Shah 1 , Emily D Black 2 , Dawn M Simon 1 , Michael J Gambello 2 , Kathryn B Garber 2, 3 , Glen J Iannucci 4 , Erica L Riedesel 5 , Ajay S Kasi 1
Pediatric Allergy, Immunology, and Pulmonology ( IF 0.9 ) Pub Date : 2021-03-17 , DOI: 10.1089/ped.2020.1280 Amit S Shah 1 , Emily D Black 2 , Dawn M Simon 1 , Michael J Gambello 2 , Kathryn B Garber 2, 3 , Glen J Iannucci 4 , Erica L Riedesel 5 , Ajay S Kasi 1
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Background: Interstitial lung disease (ILD) has been recently reported in a few patients with pathogenic variants in the Filamin A (FLNA) gene with variable presentation and prognosis. This study evaluated the respiratory manifestations and clinical features in children with FLNA disease.
中文翻译：
细丝蛋白 A 突变相关肺病的异质肺表型
背景：最近报道了一些具有不同表现和预后的细丝蛋白 A ( FLNA ) 基因致病性变异的患者间质性肺病 (ILD)本研究评估了FLNA病患儿的呼吸系统表现和临床特征
更新日期：2021-03-19
中文翻译：
细丝蛋白 A 突变相关肺病的异质肺表型
背景：最近报道了一些具有不同表现和预后的细丝蛋白 A ( FLNA ) 基因致病性变异的患者间质性肺病 (ILD)本研究评估了FLNA病患儿的呼吸系统表现和临床特征
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