A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
Crossref DOI link: https://doi.org/10.1186/s12902-015-0065-7
Published Online: 2015-10-30
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Okawa, Tetsuji
Yoshida, Masanori
Usui, Takeshi
Kudou, Takahiro
Iwasaki, Yasumasa
Fukuoka, Kazuki
Takahashi, Norio
Uehara, Yuka
Oiso, Yutaka
License valid from 2015-10-30