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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

5 Nov 2016

Abstract excerpt

BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental...

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PMID: 27816064
DOI: 10.1186/s13023-016-0519-7

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