Table of contents

New disease loci

• Original article:

  Mutations in SETD2 cause a novel overgrowth condition

  (22 May, 2014)

  Armelle Luscan, Ingrid Laurendeau, Valérie Malan, Christine Francannet, Sylvie Odent, Fabienne Giuliano, Didier Lacombe, Renaud Touraine, Michel Vidaud, Eric Pasmant, Valérie Cormier-Daire
• Original article:

  SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

  (2 June, 2014)

  Hui Guo, Xuemin Jin, Tengfei Zhu, Tianyun Wang, Ping Tong, Lei Tian, Yu Peng, Liangdan Sun, Anran Wan, Jingjing Chen, Yanling Liu, Ying Li, Qi Tian, Lu Xia, Lusi Zhang, Yongcheng Pan, Lina Lu, Qiong Liu, Lu Shen, Yunping Li, Wei Xiong, Jiada Li, Beisha Tang, Yong Feng, Xuejun Zhang, Zhuohua Zhang, Qian Pan, Zhengmao Hu, Kun Xia
• Original article:

  Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria

  (4 July, 2014)

  Yaacov Frishberg, Avraham Zeharia, Roman Lyakhovetsky, Ruth Bargal, Ruth Belostotsky