A patient with pycnodysostosis presenting with seizures and porencephalic cysts
Pycnodysostosis is a rare autosomal recessive disorder caused by mutations in the cysteine protease Cathepsin K gene located on chromosome 1q21. It has a well characterized skeletal phenotype which include short stature, generalized increased bone density with propensity of fractures, open calvarial...
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| Format: | Online |
| Language: | English |
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Medknow Publications & Media Pvt Ltd
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078620/ |