Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

por Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao
Publicado 2017

Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases

por Nakamura-Utsunomiya, Akari, Okada, Satoshi, Hara, Keiichi, Miyagawa, Shinichiro, Takeda, Kanae, Fukuhara, Rie, Nakata, Yusei, Hayashidani, Michiko, Tachikawa, Kanako, Michigami, Toshimi, Ozono, Keiichi, Kobayashi, Masao
Publicado 2010