Journal of human genetics
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.
Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, Keisuke Hamada, Kazuhiro Ogata, Jun Ikezawa, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Takeshi Mizuguchi, Naomichi Matsumoto
Published: 202510.1038/s10038-025-01431-0
Abstract
Tenascin-R (TNR) is an extracellular matrix glycoprotein that is essential for the formation of perineuronal nets in the central nervous system and is critical for neurite outgrowth, synaptic plasticity, and neural stem cell proliferation and differe…
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