A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

by Ken‐ichiro Konishi, Tatsuki Mizuochi, Hitoshi Honma, Yuri Etani, Kazue Morikawa, Kazuko Wada, Ken Yamamoto
Published 2020-11-01

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report

by Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani
Published 2021-02-01