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
Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.
Miao N et al.
International Journal of Ophthalmology, 2023
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
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
Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.
Oliver JA et al.
Plos One, 2015
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Shah MH et al.
Molecular Vision, 2014
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO et al.
Ophthalmic Genetics, 2012
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