A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

作者:Girisha Katta Mohan; Kortuem Fanny; Shah Hitesh; Alawi Malik; Dalal Ashwin; Bhavani Gandham SriLakshmi; Kutsche Kerstin
来源:European Journal of Human Genetics, 2016, 24(8): 1206-1210.
DOI:10.1038/ejhg.2015.261