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Three cases of multicentric carpotarsal osteolysis syndrome: a case series

BACKGROUND: Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene. CASE PRESENTATION...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Park, Peong Gang, Kim, Kee Hyuck, Hyun, Hye Sun, Lee, Chan Hee, Park, Jin-Su, Kie, Jeong Hae, Choi, Young Hun, Moon, Kyung Chul, Cheong, Hae Il
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6134760/
https://ncbi.nlm.nih.gov/pubmed/30208859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0682-x
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