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Mechanisms of emphysema in autosomal dominant cutis laxa

✍ Scribed by Qirui Hu; Adrian Shifren; Carla Sens; Jiwon Choi; Zoltan Szabo; Barry C. Starcher; Russell H. Knutsen; J. Michael Shipley; Elaine C. Davis; Robert P. Mecham; Zsolt Urban

Book ID
116729934
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
560 KB
Volume
29
Category
Article
ISSN
0945-053X

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Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root dilatation and emphysema. We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous m