An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia

por Tao, Katsuo, Awazu, Midori, Honda, Misa, Shibata, Hironori, Mori, Takayasu, Uchida, Shinichi, Hasegawa, Tomonobu, Ishii, Tomohiro
Publicado 2021

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

por Hamada, Junpei, Ochi, Fumihiro, Sei, Yuka, Takemoto, Koji, Hirai, Hiroki, Honda, Misa, Shibata, Hironori, Hasegawa, Tomonobu, Eguchi, Mariko
Publicado 2020

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

por Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Publicado 2021