Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardia...

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Detalhes bibliográficos

Principais autores:	Dirk Hubmacher, Lauren W. Wang, Robert P. Mecham, Dieter P. Reinhardt, Suneel S. Apte
Formato:	Artigo
Idioma:	Inglês
Publicado em:	The Company of Biologists 2015-05-01
coleção:	Disease Models & Mechanisms
Assuntos:	ADAMTS-like protein Connective tissue disorder Extracellular matrix Fibrillin microfibril Lung development
Acesso em linha:	http://dmm.biologists.org/content/8/5/487
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