Multicentric Carpotarsal Osteolysis Syndrome is Caused by Only a Few Domain-Specific Mutations in MAFB, a Negative Regulator of RANKL-Induced Osteoclastogenesis

Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene MAFB were reported in 13 probands with MCTO. MAFB is a n...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Mumm, Steven, Huskey, Margaret, Duan, Shenghui, Wenkert, Deborah, Madson, Katherine L., Gottesman, Gary S., Nenninger, Angela R., Laxer, Ronald M., McAlister, William H., Whyte, Michael P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4505615/
https://ncbi.nlm.nih.gov/pubmed/24989131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36641
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