Associated Papers
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K et al.
Bmc Bioinformatics, 2023
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
Gordon K et al.
Journal of Medical Genetics, 2020
32409509 (PubMed )
Supplement: jmedgenet-2019-106084supp001.pdf
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
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Scheuerle AE et al.
American Journal of Medical Genetics. Part A, 2018
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P et al.
Human Molecular Genetics, 2017
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