A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

by Haruka Kishi, Teruo Jojima, Takahiko Kogai, Toshie Iijima, Eriko Ohira, Dai Tanuma, Sachiyo Konno, Kanako Kato, Atsumi Kezuka, Kazumi Akimoto, Junko Sakumoto, Akira Hishinuma, Takuya Tomaru, Noriko Makita, Isao Usui, Yoshimasa Aso
Published 2020-12-01