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
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D et al.
Experimental Eye Research, 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
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