Article
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
DNA repair - 7 Mar 2011
Matsumoto Yoshiyuki, Miyamoto Tatsuo, Sakamoto Hiromi, Izumi Hideki, Nakazawa Yuka, Ogi Tomoo, Tahara Hidetoshi, Oku Shozo, Hiramoto Azuma, Shiiki Toshihide, Fujisawa Yoshiki, Ohashi Hirofumi, Sakemi Yoshihiro, Matsuura Shinya
Abstract excerpt
MRE11 and NBS1 function together as components of a MRE11/RAD50/NBS1 protein complex, however deficiency of either protein does not result in the same clinical features. Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity. Additionally, mutations in the...
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