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: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2014-01-01
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| Series: | Journal of Neurosciences in Rural Practice |
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| Online Access: | http://www.ruralneuropractice.com/article.asp?issn=0976-3147;year=2014;volume=5;issue=3;spage=284;epage=286;aulast=Kumar |