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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Bibliografiske detaljer
Udgivet i:Medicine (Baltimore)
Main Authors: Song, Hyung Keun, Sohn, Young Bae, Choi, Yong Jun, Chung, Yoon-Sok, Jang, Ja-Hyun
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer Health 2017
Fag:
3500
Online adgang: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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