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Burrage L, Charng W, Eldomery M, Willer J, Davis E, Lugtenberg D, Zhu W, Leduc M, Akdemir Z, Azamian M, Zapata G, Hernandez P, Schoots J, de Munnik S, Roepman R, Pearring J, Jhangiani S, Katsanis N, Vissers LLM, Brunner H, Beaudet A, Rosenfeld J, Muzny D, Gibbs R, Eng C, Xia F, Lalani S, Lupski J, Bongers EHF, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. The American Journal of Human Genetics. 2015 Dec;97(6):904–13. doi: 10.1016/j.ajhg.2015.11.006. |