Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

Long Guo*, Aritoshi Iida, Gandham Sri Lakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. GirishaShiro Ikegawa

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry

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Immunology and Microbiology