A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
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DOI: 10.1097/md.0000000000006367
Abstract: 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… read more here.
Keywords: femur fracture; pycnodysostosis; fracture; pycnodysostosis atypical ... See more keywords