PedAM
Pediatric Disease Annotations & Medicines
| Disease | craniosynostosis |
| Phenotype | C0238402|pycnodysostosis |
| Sentences | 1 |
| PubMedID- 21968522 | Since then, several mutations on unrelated patients and consanguineous families have been identified in the cathepsin k gene (ctsk), affecting osteoclast function.only two previous reports have demonstrated the presence of craniosynostosis in patients with pycnodysostosis(fleming et al., 2007; osimani et al., 2010). |
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