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- Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, Jennifer Guo, Patricia M Zerfas, Joshi Stephen, Andrew R Cullinane, Joy Bryant, Roxanne Fischer, Brian P Brooks, Wadih M Zein, Edythe A Wiggs, Christopher K Zalewski, Andrea Poretti, Melanie M Bryan, Meghana Vemulapalli, James C Mullikin, Martha Kirby, Stacie M Anderson, NISC Comparative Sequencing Program, Marjan Huizing, Camilo Toro, William A Gahl, Meral Gunay-AygunJournal of Medical Genetics May 2016, 53 (5) 318-329; DOI: 10.1136/jmedgenet-2015-103416
- SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopiaHui 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 XiaJournal of Medical Genetics Aug 2014, 51 (8) 518-525; DOI: 10.1136/jmedgenet-2014-102351
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