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Medical condition
Pycnodysostosis
Woman with pycnodysostosis
Specialty
Rheumatology, medical genetics, endocrinology
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]
^"Dictionary of Botanical Epithets".
^Gelb, BD; Shi, GP; Chapman, HA; Desnick, RJ (1996). "Pycnodysostosis, a lysosomal storage disease caused by cathepsin K deficiency". Science. 273 (5279): 1236–1238. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.
^"Pycnodysostosis". NORD (National Organization for Rare Disorders). Retrieved 2021-11-21.
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noncollagenous proteins. Mutations in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by a lack of functional...
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