Hemizygous deletion of COL3A1, COL5A2 and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Title
Hemizygous deletion of COL3A1, COL5A2 and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 18, Issue 12, Pages 1315-1321
Publisher
Springer Nature
Online
2010-07-21
DOI
10.1038/ejhg.2010.105

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