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BMC Medical Genetics

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1. Content Type:Case Report

     |  17 August 2018

   The phenomena of balanced effect between α-globin gene and of β-globin gene

   Authors:Liangying Zhong, Xin Gan, Lingling Xu, Chujia Liang, Yingjun Xie, Wenbin Lin, Peisong Chen and Min Liu
2. Content Type:Case Report

     |  15 August 2018

   First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications

   Authors:Markus W. Löffler, Julia Steinhilber, Franz J. Hilke, Sebastian P. Haen, Hans Bösmüller, Ivonne-Aidee Montes-Mojarro, Irina Bonzheim, Antje Stäbler, Ulrike Faust, Ute Grasshoff, Ingmar Königsrainer, Hans-Georg Rammensee, Lothar Kanz, Alfred Königsrainer, Stefan Beckert, Olaf Riess…
3. Content Type:Case Report

     |  10 August 2018

   Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review

   Authors:Zhaowei Zhou, Lidan Ma, Juan Zhou, Zhijian Song, Jinmai Zhang, Ke Wang, Boyu Chen, Dun Pan, Zhiqiang Li, Changgui Li and Yongyong Shi
4. Content Type:Research Article

     |  10 August 2018

   High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

   Authors:Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant and Aurélia Poujois
5. Content Type:Research Article

     |  9 August 2018

   The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

   Authors:Yu-Liang Jiang, Zi-Ye Zhao, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Hao Wang, En-Da Yu, Shu-Han Sun and Shou-Bin Ning

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