Intracranial Calcification in a Patient with HDR Syndrome and a GATA3 Mutation

被引：3
|
作者：
Hayashi, Yuichi [1 ]
Suwa, Tetsuya [2 ]
Inuzuka, Takashi [1 ]
机构：
[1] Gifu Univ, Grad Sch Med, Dept Neurol & Geriatr, Gifu, Japan
[2] Gifu Univ, Grad Sch Med, Dept Endocrinol & Diabet, Tokyo, Japan
来源：
INTERNAL MEDICINE | 2013年 / 52卷 / 01期
关键词：
HDR syndrome; GATA3; intracranial calcification; HYPOPARATHYROIDISM;
D O I：
10.2169/internalmedicine.52.8911
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：161 / 162
页数：2
相关论文
共 50 条
  • [21] GATA3 haplo-insufficiency causes human HDR syndrome
    Van Esch, H
    Groenen, P
    Nesbit, MA
    Schuffenhauer, S
    Lichtner, P
    Vanderlinden, G
    Harding, B
    Beetz, R
    Bilous, RW
    Holdaway, I
    Shaw, NJ
    Fryns, JP
    Van de Ven, WV
    Thakker, RV
    Devriendt, K
    NATURE, 2000, 406 (6794) : 419 - 422
  • [22] Novel dominant-negative mutant of GATA3 in HDR syndrome
    Ohta, Masaaki
    Eguchi-Ishimae, Minenori
    Ohshima, Mayumi
    Iwabuki, Hidehiko
    Takemoto, Koji
    Murao, Kikuko
    Chisaka, Toshiyuki
    Yamamoto, Eiichi
    Higaki, Takashi
    Isoyama, Keiichi
    Eguchi, Mariko
    Ishii, Eiichi
    JOURNAL OF MOLECULAR MEDICINE-JMM, 2011, 89 (01): : 43 - 50
  • [23] Novel dominant-negative mutant of GATA3 in HDR syndrome
    Masaaki Ohta
    Minenori Eguchi-Ishimae
    Mayumi Ohshima
    Hidehiko Iwabuki
    Koji Takemoto
    Kikuko Murao
    Toshiyuki Chisaka
    Eiichi Yamamoto
    Takashi Higaki
    Keiichi Isoyama
    Mariko Eguchi
    Eiichi Ishii
    Journal of Molecular Medicine, 2011, 89 : 43 - 50
  • [24] A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
    Arrojo Martins, Fabio Tadeu
    Ramos, Berenice Dias
    Sartorato, Edi Lacia
    GENETICS AND MOLECULAR BIOLOGY, 2018, 41 (04) : 794 - 798
  • [25] A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
    Mayo Ikeuchi
    Kyoko Kiyota
    Tomoyo Itonaga
    Fumika Kawano-Matsuda
    Yasuhisa Ohata
    Makoto Fujiwara
    Takuo Kubota
    Keiichi Ozono
    Kenji Ihara
    CEN Case Reports, 2021, 10 : 241 - 243
  • [26] A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
    Ikeuchi, Mayo
    Kiyota, Kyoko
    Itonaga, Tomoyo
    Kawano-Matsuda, Fumika
    Ohata, Yasuhisa
    Fujiwara, Makoto
    Kubota, Takuo
    Ozono, Keiichi
    Ihara, Kenji
    CEN CASE REPORTS, 2021, 10 (02) : 241 - 243
  • [27] Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene
    Kamezaki, Michitsugu
    Kusaba, Tetsuro
    Adachi, Takaomi
    Yamashita, Noriyuki
    Nakata, Mayumi
    Ota, Noriyoshi
    Shiotsu, Yayoi
    Ishida, Mami
    Usui, Takeshi
    Tamagaki, Keiichi
    INTERNAL MEDICINE, 2017, 56 (11) : 1393 - 1397
  • [28] Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
    Nesbit, MA
    Bowl, MR
    Harding, B
    Ali, A
    Ayala, A
    Crowe, C
    Dobbie, A
    Hampson, G
    Holdaway, I
    Levine, MA
    McWilliams, R
    Rigden, S
    Sampson, J
    Williams, AJ
    Thakker, RV
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (21) : 22624 - 22634
  • [29] Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
    Nakamura, Akie
    Fujiwara, Fumie
    Hasegawa, Yukihiro
    Ishizu, Katsura
    Mabe, Akiyo
    Nakagawa, Hiroyasu
    Nagasaki, Keisuke
    Jo, Wakako
    Tajima, Toshihiro
    ENDOCRINE JOURNAL, 2011, 58 (02) : 123 - 130
  • [30] HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
    Yang, Aram
    Kim, Jinsup
    Ki, Chang-Seok
    Hong, Sung Hwa
    Cho, Sung Yoon
    Jin, Dong-Kyu
    BMC MEDICAL GENETICS, 2017, 18
12345