Tag Archives: perlecan

Perlecan HS produces TGF-β1 deficiency in mutant skin

The skin is the largest organ in the human body and one of it’s most dynamic. Skin has a large surface area and protects the body from the external environment and is challenged by many poisonous substances

A hereditary mutation in Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (SJS) type 1, also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by short stature, neuromyotonia (sustained contraction of skeletal muscles), chondrodysplasia (abnormal development of the cartilage of long bones), joint contractures,