The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.

Abstract excerpt

Geleophysic dysplasia (GD) is caused by recessive mutations in ADAMTSL2 (a disintegrin and metalloprotease with thrombospondin type I motifs-2; GD1), or dominant mutations in FBN1 (GD2) or LTBP3 (GD3). GD is characterized by severe short stature and other skeletal abnormalities, characteristic facial features, thick skin, and hypermuscular build. Life-threatening complications can arise from progressive heart...

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• ADAMTS Proteins
• Bone Diseases, Developmental
• Connective Tissue
• Disease Models, Animal
• Extracellular Matrix Proteins