Pycnodysostosis

Pycnodysostosis
Woman with pycnodysostosis
SpecialtyRheumatology, medical genetics, endocrinology 

Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone') is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD.

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