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pycnodysostosis
pycnodysostosis Pycnodysostosis is an inherited biological disorder caused by loss-of-function changes in the CTSK gene, which affects normal bone breakdown.
Pycnodysostosis is an inherited biological disorder caused by loss-of-function changes in the CTSK gene, which affects normal bone breakdown. It is associated with overly dense bones, short stature, underdevelopment of the pituitary gland with growth hormone deficiency, and cerebral demyelination.