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
Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.
Miao N et al.
International Journal of Ophthalmology, 2023
Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report.
Yu X et al.
American Journal of Ophthalmology Case Reports, 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
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
Rim JH et al.
Biomolecules, 2020
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H et al.
Journal of Human Genetics, 2019
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