Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene...
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and mi...
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Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4538198
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4538198
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ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/ejhg.2014.264
