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Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation
We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Medknow Publications & Media Pvt Ltd
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3680893/ https://ncbi.nlm.nih.gov/pubmed/23772242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.111420 |
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