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A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease...
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| Pubblicato in: | Medicine (Baltimore) |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer Health
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5371460/ https://ncbi.nlm.nih.gov/pubmed/28328823 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000006367 |
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