Aggressive periodontitis with neutropenia caused by MMD2 mutation
Noriyoshi Mizuno, Hiroyuki Morino, Keichiro Mihara, Tomoyuki Iwata, Yoshinori Ohno, Shinji Matsuda, Kazuhisa Ouhara, Mikihito Kajiya, Kyoko Suzuki-Takedachi, Yusuke Sotomaru, Katsuhiro Takeda, Shinya Sasaki, Ai Okanobu, Tetsushi Sakuma, Takashi Yamamoto, , Hidemi Kurihara
The paper identifies a MMD2 mutation causing aggressive periodontitis and neutropenia in a Japanese family, showing impaired granulocyte differentiation and immune function.
bioRxiv · Nov 1, 2019 · PreprintGenomics