HDR: A Novel Mutation in GATA-3 with Variable Expressivity in an Affected Family

被引：0
|
作者：
Sambharia, Meenakshi [1 ]
Misurac, Jason [1 ]
Thomas, Christie P. [1 ]
机构：
[1] Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2021年 / 32卷 / 10期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
PO1285
引用
收藏
页码：413 / 413
页数：1
相关论文
共 50 条
  • [21] Novel function of GATA-3, revealed by conditional deficient mice
    IC Ho
    SY Pai
    ML Truitt
    Arthritis Res Ther, 5
  • [22] 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
  • [23] Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family
    Kato, Koichi
    Isbell, Holly M.
    Fressart, Veronique
    Denjoy, Isabelle
    Debbiche, Amal
    Itoh, Hideki
    Poinsot, Jacques
    George, Alfred L., Jr.
    Coulombe, Alain
    Shea, Madeline A.
    Guicheney, Pascale
    CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2022, 15 (03): : E010572
  • [24] Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
    Klaniewska, Magdalena
    Toczewski, Krystian
    Rozensztrauch, Anna
    Bloch, Michal
    Dzielendziak, Agata
    Gasperowicz, Piotr
    Slezak, Ryszard
    Ploski, Rafal
    Rydzanicz, Malgorzata
    Smigiel, Robert
    Patkowski, Dariusz
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [25] 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
  • [26] 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
  • [27] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
    Okawa, Tetsuji
    Yoshida, Masanori
    Usui, Takeshi
    Kudou, Takahiro
    Iwasaki, Yasumasa
    Fukuoka, Kazuki
    Takahashi, Norio
    Uehara, Yuka
    Oiso, Yutaka
    BMC ENDOCRINE DISORDERS, 2015, 15
  • [28] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome
    Tetsuji Okawa
    Masanori Yoshida
    Takeshi Usui
    Takahiro Kudou
    Yasumasa Iwasaki
    Kazuki Fukuoka
    Norio Takahashi
    Yuka Uehara
    Yutaka Oiso
    BMC Endocrine Disorders, 15
  • [29] Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing
    Lin, Yin-Hung
    Wu, Chen-Chi
    Hsu, Tun-Yen
    Chiu, Wei-Yih
    Hsu, Chuan-Jen
    Chen, Pei-Lung
    MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2015, 771 : 1 - 5
  • [30] VARIABLE EXPRESSIVITY OF SCN5A MUTATION IN A FAMILY WITH CARDIAC DYSFUNCTION AND SUSPECTED BRUGADA SYNDROME
    Malizia, Biagio
    Curcio, Antonio
    Rodolfo, Iuliano
    Colao, Emma
    Pingitore, Elisabetta
    Cardia, Giada
    Romano, Letizia Rosa
    Pasceri, Eugenia
    Aquila, Iolanda
    Indolfi, Ciro
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2022, 24
12345