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The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene

2024-02-28

Abstract excerpt

<title>Abstract</title> <p>Background: Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions. While cutis laxa has been linked to conditions like emphysema, asthma, and bronchiectasis, the specific pathological and radiological characteristics underlying pulmonary complications r...

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Literature Corpus work
a3bfae76-0a14-5e10-b219-d1d5b9ac9fde
DOI
10.21203/rs.3.rs-3957962/v1
Open publication

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The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin geneDOI 10.21203/rs.3.rs-3957962/v1
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