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BMC Medical Genetics

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1. Content Type:Case Report

     |  12 July 2019

   Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

   Authors:Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun
2. Content Type:Research Article

     |  11 July 2019

   Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

   Authors:Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov and Ekaterina Y. Zakharova
3. Content Type:Case Report

     |  9 July 2019

   A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report

   Authors:Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat and Nader Shakibazad
4. Content Type:Research Article

     |  5 July 2019

   Interaction between mitochondrial NADH dehydrogenase subunit-2 5178 C > A and clinical risk factors on the susceptibility of essential hypertension in Chinese population

   Authors:Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li
5. Content Type:Case Report

     |  5 July 2019

   Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient

   Authors:Xiaodong Shi, Xiaolan Huang, Yu Zhang and Xiaodai Cui