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BMC Medical Genetics

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1. Content Type:Case Report

     |  6 November 2018

   A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

   Authors:Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo and Jiansheng Xie
2. Content Type:Case Report

     |  30 October 2018

   NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

   Authors:Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu and Xiu Xu
3. Content Type:Research Article

     |  30 October 2018

   Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

   Authors:Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao and Yongxin Wen
4. Content Type:Research Article

     |  19 October 2018

   A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

   Authors:Zixun Song, Nuo Si and Wei Xiao
5. Content Type:Case Report

     |  19 October 2018

   Detection of a heterozygous germline APCmutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam

   Authors:Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan and Hoai-Nghia Nguyen

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