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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

  • Published:2020-06 Issue: Volume:88 Page:1-18
  • ISSN:0945-053X
  • Container-title:Matrix Biology
  • language:en
  • Short-container-title:Matrix Biology

Author:

Karoulias Stylianos Z.,Beyens Aude,Balic Zerina,Symoens Sofie,Vandersteen Anthony,Rideout Andrea L.,Dickinson John,Callewaert Bert,Hubmacher Dirk

Funder

Department of Orthopedics

Special Research Fund, Flanders of Ghent University

European Academy of Dermatovenereology

Publisher

Elsevier BV

Subject

Molecular Biology

Reference68 articles.

1. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature;Morales;Am. J. Hum. Genet.,2009

2. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation;Khan;Ophthal. Genet.,2012

3. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome;Shah;Mol. Vis.,2014

4. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome;Faivre;Am. J. Med. Genet.,2003

5. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome;Dagoneau;Am. J. Hum. Genet.,2004
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