A novel pathogenic missense ADAMTS17 variant that impairs...

Scientific Reports 2020 / 12 Vol. 10; Iss. 1

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

Evans, Daniel R., Green, Jane S., Fahiminiya, Somayyeh, Majewski, Jacek, Fernandez, Bridget A., Deardorff, Matthew A., Johnson, Gordon J., Whelan, James H., Hubmacher, Dirk, Apte, Suneel S., Woods, Mi
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Volume:
10
Journal:
Scientific Reports
DOI:
10.1038/s41598-020-66978-8
Date:
December, 2020
File:
PDF, 1.59 MB
2020
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