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Article

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

Life science alliance - 1 Dec 2025

Taye Nandaraj, Karoulias Stylianos Z, Balic Zerina, Wang Lauren W, Willard Belinda B, Martin Daniel, Richard Daniel, Okamoto Alexander S, Capellini Terence D, Apte Suneel S, Hubmacher Dirk

Abstract excerpt

Weill-Marchesani syndrome (WMS) is characterized by severe short stature, joint contractures, tight skin, heart valve and eye anomalies. WMS is caused by biallelic mutations in ADAMTS10, ADAMTS17, or LTBP2, or mono-allelic mutations in FBN1 Because bone growth is driven by chondrocyte proliferation and hypertrophy in the growth plates, the genetics of WMS suggests that the affected extracellular matrix (ECM)...

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Share to ADAMTS Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type VI

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Share to Extracellular Matrix Proteins

Share to Fibrillin-1

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Source

Open in PubMed Open full text

Identifiers

PMID: 41034152
DOI: 10.26508/lsa.202503232
PMCID: PMC12489390

Genes

ADAMTS17
ADAMTS10
COL6A2
FBN1
FN1
LTBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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