Occurrence of Emphysema in Individuals With Williams-Beuren SyndromeTake-home Points

Background: Williams-Beuren syndrome (WBS) is a multisystem genetic condition characterized by a submicroscopic deletion on the seventh chromosome (7q11.23), which usually includes the elastin gene. Research Question: Although the elastin deficiency in WBS can predispose individuals to emphysema, th...

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Hlavní autoři: Uddalak Majumdar, MD, Theresa M. Kline, MLIS, AHIP, James K. Stoller, MD
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2025-03-01
Edice:CHEST Pulmonary
Témata:
alpha-1 antitrypsin
COPD
elastin
emphysema
Williams-Beuren syndrome
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2949789224000291
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