Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

Por Miyake, Noriko, Takahashi, Hidehisa, Nakamura, Kazuyuki, Isidor, Bertrand, Hiraki, Yoko, Koshimizu, Eriko, Shiina, Masaaki, Sasaki, Kazunori, Suzuki, Hidefumi, Abe, Ryota, Kimura, Yayoi, Akiyama, Tomoko, Tomizawa, Shin-ichi, Hirose, Tomonori, Hamanaka, Kohei, Miyatake, Satoko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Obo, Kazuyuki, Kato, Mitsuhiro, Ogata, Kazuhiro, Matsumoto, Naomichi
Publicado no Am J Hum Genet (2020)