A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
2017
AbstractRationale: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 p
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
22
References
16
Citations
NaN
KQI