The hypoparathyroidism-deafness-renal dysplasia syndrome: A case report

被引：1
|
作者：
Soledad Gogorza, Maria [1 ]
Mena, Elena [1 ]
Serra, Guillermo [1 ]
Jimenez, Ana [1 ]
Noval, Mercedes [1 ]
Pereg, Vicente [1 ]
机构：
[1] Hosp Univ Son Espases, Serv Endocrinol & Nutr, Palma De Mallorca, Illes Balears, Spain
来源：
ENDOCRINOLOGIA DIABETES Y NUTRICION | 2018年 / 65卷 / 03期
关键词：
HUMAN HDR SYNDROME; TRANSCRIPTION FACTOR; GATA3;
D O I：
10.1016/j.endinu.2017.12.002
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：187 / +
页数：2
相关论文
共 50 条
  • [1] Hypoparathyroidism Deafness Renal Dysplasia Syndrome HDR Report of a Family Case
    Zubicueta, Marta
    Rios, Beatriz
    Marino, Roxana
    Ramirez, Pablo
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 27 - 27
  • [2] Clinical Auditory Phenotypes Associated withGene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
    [J]. 中华医学杂志(英文版), 2017, (06) : 703 - 709
  • [3] The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
    Doneray, Hakan
    Usui, Takeshi
    Kaya, Avni
    Donmez, Ayse Sena
    [J]. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2015, 7 (02) : 140 - 143
  • [4] Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
    Wang, Li
    Lin, Qiong-Fen
    Wang, Hong-Yang
    Guan, Jing
    Lan, Lan
    Xie, Lin-Yi
    Yu, Lan
    Yang, Ju
    Zhao, Cui
    Liang, Jin-Long
    Zhou, Han-Lin
    Yang, Huan-Ming
    Xiong, Wen-Ping
    Zhang, Qiu-Jing
    Wang, Da-Yong
    Wang, Qiu-Ju
    [J]. CHINESE MEDICAL JOURNAL, 2017, 130 (06) : 703 - +
  • [5] HYPOPARATHYROIDISM, DEAFNESS, AND RENAL DYSPLASIA
    Civan, N.
    Erem, C.
    Coskun, H.
    Kocak, M.
    Nuhoglu, I.
    Ersoz, H. O.
    [J]. ACTA ENDOCRINOLOGICA-BUCHAREST, 2014, 10 (04) : 687 - 692
  • [6] Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
    Wang Li
    Lin QiongFen
    Wang HongYang
    Guan Jing
    Lan Lan
    Xie LinYi
    Yu Lan
    Yang Ju
    Zhao Cui
    Liang JinLong
    Zhou HanLin
    Yang HuanMing
    Xiong WenPing
    Zhang QiuJing
    Wang DaYong
    Wang QiuJu
    [J]. 中华医学杂志英文版, 2017, 130 (06)
  • [7] Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report
    Kojima, Mariko
    Nagano, Tatsuya
    Nakata, Kyosuke
    Hara, Shigeo
    Katsurada, Naoko
    Yamamoto, Masatsugu
    Tachihara, Motoko
    Kamiryo, Hiroshi
    Kobayashi, Kazuyuki
    Usui, Takeshi
    Nishimura, Yoshihiro
    [J]. ONCOTARGETS AND THERAPY, 2018, 11 : 1595 - 1599
  • [8] Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome
    Belge, Hendrica
    Dahan, Karin
    Cambier, Jean-Francois
    Benoit, Valerie
    Morelle, Johann
    Bloch, Julie
    Vanhille, Philippe
    Pirson, Yves
    Demoulin, Nathalie
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2017, 32 (05) : 830 - 837
  • [9] Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response
    Kita, Makoto
    Kuwata, Yasuhiro
    Usui, Takeshi
    [J]. AURIS NASUS LARYNX, 2019, 46 (05) : 808 - 812
  • [10] Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis
    Kato, Yuji
    Wada, Naoki
    Numata, Atsushi
    Kakizaki, Hidehiro
    [J]. INTERNATIONAL JOURNAL OF UROLOGY, 2007, 14 (05) : 440 - 442
12345