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1. Content Type:CASE REPORT

     |  26 June 2018

   A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

   Authors:Elena Buena-Atienza, Fadi Nasser, Susanne Kohl and Bernd Wissinger
2. Content Type:Case Report

     |  22 June 2018

   A Chinese family affected by lynch syndrome caused by MLH1 mutation

   Authors:Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li and Jiafu Ji
3. Content Type:Research Article

     |  19 June 2018

   Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

   Authors:Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen and C. R. Srikumari Srisailapathy
4. Content Type:Case Report

     |  18 June 2018

   A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

   Authors:Jung-Eun Moon, Su-Jeong Lee and Cheol Woo Ko
5. Content Type:Research Article

     |  18 June 2018

   Clinical characteristics and spectrum of NF1mutations in 12 unrelated Chinese families with neurofibromatosis type 1

   Authors:Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao and Xue Zhang

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