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Cutis laxa: autosomal dominant inheritance in five generations

✍ Scribed by A. Damkier; F. Brandrup; H. Starklint


Book ID
115090194
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
854 KB
Volume
39
Category
Article
ISSN
0009-9163

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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