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Pycnodysostosis with unusual findings: a case report
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Py...
Autores principales: | Mujawar, Quais, Naganoor, Ravi, Patil, Harsha, Thobbi, Achyut Narayan, Ukkali, Sadashiva, Malagi, Naushad |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Cases Network Ltd
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740175/ https://www.ncbi.nlm.nih.gov/pubmed/19829823 http://dx.doi.org/10.4076/1757-1626-2-6544 |
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