Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Jennie E Murray, Mirjam van der Burg, Hanna IJspeert, Paula Carroll, Qian Wu, Takashi Ochi, Andrea Leitch, Edward S Miller, Boris Kysela, Alireza Jawad, Armand Bottani, Francesco Brancati, Marco Cappa, Valerie Cormier-Daire, Charu Deshpande, Eissa A Faqeih, Gail E Graham, Emmanuelle Ranza, Tom L Blundell, Andrew P Jackson, Grant S Stewart, Louise S Bicknell
American journal of human genetics 2015;96(3):412-24