Associated Papers
A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.
Wu HY et al.
International Journal of Ophthalmology, 2026
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.
Taye N et al.
Life Science Alliance, 2025
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.
Taye N et al.
Biorxiv : the Preprint Server for Biology, 2025
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D et al.
Experimental Eye Research, 2023
Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.
Miao N et al.
International Journal of Ophthalmology, 2023
Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report.
Huang J et al.
Frontiers in Medicine, 2022
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Evans DR et al.
Scientific Reports, 2020
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
Karoulias SZ et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2020
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