Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> Gene and Literature Review

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of <i>MAFB</i> 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 <i>MAFB</i> gene. The skeletal disorder is often associated...

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Bibliographic Details
Main Authors: Stefania Drovandi, Francesca Lugani, Olivia Boyer, Edoardo La Porta, Paolo Giordano, Aurélie Hummel, Bertrand Knebelmann, Joséphine Cornet, Genevieve Baujat, Beata S. Lipska-Ziętkiewicz, Gian Marco Ghiggeri, Gianluca Caridi, Andrea Angeletti
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Journal of Clinical Medicine
Subjects:
multicentric carpotarsal syndrome
monogenic kidney disease
hereditary podocytopathy
glomerulonephritis
nephrotic syndrome
renal failure
Online Access:https://www.mdpi.com/2077-0383/11/15/4423

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https://www.mdpi.com/2077-0383/11/15/4423

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