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BMC Medical Genetics

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1. Content Type:Research Article

     |  5 August 2019

   Rapid detection of PAH gene mutations in Chinese people

   Authors:Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai and Ling-Li Wang
2. Content Type:Case Report

     |  5 August 2019

   De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

   Authors:Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao
3. Content Type:Research Article

     |  1 August 2019

   Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

   Authors:Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu and Xiong Wang
4. Content Type:Case Report

     |  31 July 2019

   Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report

   Authors:Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś
5. Content Type:Case Report

     |  26 July 2019

   Characterization of the c.793-1G > A splicing variant inCHEK2 gene as pathogenic: a case report

   Authors:Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas