Article
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2010
Yue Zhihui, Xiong Shiyi, Sun Liangzhong, Huang Weijun, Mo Ying, Huang Liuyi, Jiang Xiaoyun, Chen Shumei, Hu Bin, Wang Yiming
Abstract excerpt
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive pleiotropic disease caused by mutations in the SMARCAL1 gene. To date there have been no data from the Chinese population. Here, we report the first SIOD case in the Chinese population. No case with gross carpal bon...
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