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Article

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

Matrix biology : journal of the International Society for Matrix Biology - 1 Jun 2020

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

Abstract excerpt

Weill-Marchesani syndrome (WMS) is a rare genetic disorder that affects the musculoskeletal system, the eye, and the cardiovascular system. Individuals with WMS present with short stature, joint contractures, thick skin, microspherophakia, small and dislocated lenses, and cardiac valve anomalies. WMS can be caused by recessive mutations in ADAMTS10 (WMS 1), ADAMTS17 (WMS 4), or LTBP2 (WMS 3), or by dominant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31726086
DOI: 10.1016/j.matbio.2019.11.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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