Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene
Article in Ophthalmic Genetics (July 2024)
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ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia
Article in JCI Insight (February 2024)
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature
Article in Annual Review of Genomics and Human Genetics (August 2023)