A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes

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 protease that is encoded by CTSK. PATIENT CONCERNS We report a… (More)
DOI: 10.1097/MD.0000000000006367

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@inproceedings{Song2017ACR, title={A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes}, author={Hyung K. Song and Young Bae Sohn and Yong Jun Choi and Yoon Sok Chung and J. L. Jang}, booktitle={Medicine}, year={2017} }