Disease: Dwarfism stiff joint ocular abnormalities
- A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias
- A Novel Mutation in the <em>ADAMTS10</em> Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
- A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
- Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation
- Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
- Moore Federman syndrome: A rare cause of pseudoscleroderma
- Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature