Associated Papers
Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.
Li M et al.
Frontiers in Genetics, 2022
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo P et al.
Molecular Genetics and Metabolism Reports, 2019
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