Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney...

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Detalles Bibliográficos
Autores principales: Drovandi, Stefania, Lugani, Francesca, Boyer, Olivia, La Porta, Edoardo, Giordano, Paolo, Hummel, Aurélie, Knebelmann, Bertrand, Cornet, Joséphine, Baujat, Genevieve, Lipska-Ziętkiewicz, Beata S., Ghiggeri, Gian Marco, Caridi, Gianluca, Angeletti, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9369440/
https://www.ncbi.nlm.nih.gov/pubmed/35956038
http://dx.doi.org/10.3390/jcm11154423

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