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
  • [1] A Novel Mutation in GATA3 Gene in HDR Syndrome
    Kim, Dooman
    Yang, Seoung
    Park, Jun
    Son, Ho Young
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [2] Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome
    Chen, Liu
    Chen, Bing
    Leng, Wuilin
    Lui, Xiaotian
    Wu, Qinan
    Ouyang, Xinshou
    Liang, Ziwen
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2015, 43 (05) : 718 - 724
  • [3] HDR syndrome due to a new mutation in the GATA3 gene
    Donbaloglu, Zeynep
    Cetin, Kursat
    Coskun, Mert
    Clark, Ozden Altiok
    Aksoy, Gulsah Kaya
    Parlak, Mesut
    Tuhan, Hale
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 337 - 337
  • [4] Identification of a novel insertion mutation in GATA3 with HDR syndrome
    Mino Y.
    Kuwahara T.
    Mannami T.
    Shioji K.
    Ono K.
    Iwai N.
    Clinical and Experimental Nephrology, 2005, 9 (1) : 58 - 61
  • [5] Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation
    Muroya, Koji
    Mochizuki, Takahiro
    Fukami, Maki
    Iso, Manami
    Fujita, Keinosuke
    Itakura, Mitsuo
    Ogata, Tsutomu
    ENDOCRINE JOURNAL, 2010, 57 (02) : 171 - 174
  • [6] HDR Syndrome: A Novel "de novo" Mutation in GATA3 Gene
    Ferraris, Silvio
    Del Monaco, Angelo Giovanni
    Garelli, Emanuela
    Carando, Adriana
    De Vito, Barbara
    Pappi, Patrizia
    Lala, Roberto
    Ponzone, Alberto
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 770 - 775
  • [7] A Novel Mutation in GATA3 in a Patient with Bakarat Syndrome
    Maury, Kelly
    Marino, Roxana
    Brunetto, Oscar
    Hidalgo, Lorena
    Ramirez, Paul
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 35 - 36
  • [8] A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
    Kusakawa, Moe
    Sato, Takeshi
    Hosoda, Ai
    Araki, Eriko
    Matsuzaki, Yohei
    Yamashita, Yukio
    Ishihara, Jun
    Inagaki, Yoshinori
    Uchida, Noboru
    Ishii, Tomohiro
    Hasegawa, Tomonobu
    HUMAN GENOME VARIATION, 2019, 6 (1)
  • [9] A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
    Moe Kusakawa
    Takeshi Sato
    Ai Hosoda
    Eriko Araki
    Yohei Matsuzaki
    Yukio Yamashita
    Jun Ishihara
    Yoshinori Inagaki
    Noboru Uchida
    Tomohiro Ishii
    Tomonobu Hasegawa
    Human Genome Variation, 6
  • [10] Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome
    van Beelen, E.
    Leijendeckers, J. M.
    Admiraal, R. J. C.
    Huygen, P. L. M.
    Hoefsloot, L. H.
    Pennings, R. J. E.
    Snik, A. F. M.
    Kunst, H. P. M.
    AUDIOLOGY AND NEURO-OTOLOGY, 2014, 19 (02) : 106 - 114
12345