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A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder caused by heterozygous mutations in the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B). This is an autosomal dominant condition with a high frequency of sporadic cases. MCTO is characterized by ost...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2018
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6234043/ https://ncbi.nlm.nih.gov/pubmed/30430035 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1657760 |
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