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| Pycnodysostosis | |
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| Woman with pycnodysostosis | |
| Specialty | Rheumatology, medical genetics, endocrinology  |
Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone'[1]) 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, Bruce D.; Shi, Guo-Ping; Chapman, Harold A.; Desnick, Robert J. (30 August 1996). "Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency". Science. 273 (5279): 1236–1238. Bibcode:1996Sci...273.1236G. doi:10.1126/science.273.5279.1236. PMID 8703060. S2CID 7188076.
- ^ "Pycnodysostosis". NORD (National Organization for Rare Disorders). Retrieved 2021-11-21.