Genetic Disorders: Understanding Pycnodysostosis Impact
Pycnodysostosis is a rare genetic disorder characterized by fragile bones and short stature. It was first described in 1938 by a French physician, Dr. Alfred Brain. The disorder is caused by a mutation in the gene encoding the enzyme cathepsin K, which is responsible for the breakdown of proteins in the body. People with pycnodysostosis […]