Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder

Michael P. Whyte, Robert S. Weinstein, Paul H. Phillips, William H. McAlister, Raghuhr H. Ramakrishnaiah, George Schaefer, Rongsheng Cai, Michele R. Hutchison, Shenghui Duan, Gary S. Gottesman, Steven Mumm