Pycnodysostosis
Genetic disease / From Wikipedia, the free encyclopedia
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Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense",[1] 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.[2] It is also known as PKND and PYCD.[3]
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Specialty | Rheumatology, medical genetics, endocrinology |
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