Results 151 to 160 of about 1,253,968 (181)

A Case Report of Familial HDR Syndrome

2020
HDR Syndrome is a rare disease that is inherited autosomal dominantly characterized by a triad of hypoparathyroidism, sensorineural hearing impairment and renal dysplasia. This syndrome is caused by haploinsufficiency of GATA3 gene. We report a family in which two sisters and the father diagnosed with HDR Syndrome because of having hypoparathyroidism ...
KIREL, Birgül, HAZER, İlhan, AYDIN, Can   +2 more
openaire   +1 more source

Presumed Atypical HDR Syndrome Associated With Band Keratopathy and Pigmentary Retinopathy

Journal of Pediatric Ophthalmology & Strabismus, 2010
This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium.
Cinoo, Kim, Hae Il, Cheong, Jeong Hun, Kim, Young Suk, Yu, Ji Won, Kwon   +4 more
openaire   +2 more sources

Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding

European Journal of Pediatrics, 2012
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal abnormalities) (OMIM #146265) is a rare autosomal dominant disorder caused by mutations in the GATA-3 gene (OMIM 13120), a transcription factor coding for a protein involved in vertebrate embryonic development.
Chenouard, Alexis, Isidor, Bertrand, Allain-Launay, Emma, Moreau, Anne, Le Bideau, Marc, Roussey, Gwenaelle   +5 more
openaire   +3 more sources

A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome)

Journal of Pediatric Endocrinology and Metabolism, 2006
We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). The proband, an 11 year-old girl, complained of periodic tetany lasting for 6 years, and also used a hearing aid because of sensorineural hearing impairment.
Masanori, Adachi, Katsuhiko, Tachibana, Yumi, Asakura, Takayoshi, Tsuchiya   +3 more
openaire   +2 more sources

Transcription factor GATA3 and the human HDR syndrome.

Cellular and molecular life sciences : CMLS, 2001
Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) syndrome. Deletion-mapping studies and subsequent mutation analysis revealed that haploinsufficiency for GATA3 is the underlying mechanism of the HDR syndrome.
H, Van Esch, K, Devriendt
openaire   +1 more source

HDR Syndrome : A Case Report

Journal of the Royal Medical Services, 2015
Riyad Mutair, Basim Al-Momany
openaire   +1 more source

Auditory Evaluation in a Patient with HDR Syndrome

Practica Oto-Rhino-Laryngologica, 2019
Haruki Kondo, Hiroshi Nakanishi, Katsuyoshi Suzuki, Katsura Hakamada, Seiji Hosokawa, Hiroyuki Mineta, Jun Okamura   +6 more
openaire   +1 more source

HDR Syndrome

2003
Hilde Van Esch, Koenraad Devriendt
openaire   +1 more source

HDR Syndrome: report of a heterogeneous familial presentation

2022
Santana, Lucas, Melo, Filipa, Teixeira, Marisa, Reis, Cláudia Falcão, Sá, Joaquim, Cerqueira, Rita   +5 more
openaire   +1 more source

Germinal mosaicism of GATA3 in a family with HDR syndrome

American Journal of Medical Genetics Part A, 2009
Yue, Sun, Weibo, Xia, Xiaoping, Xing, Mei, Li, Ou, Wang, Yan, Jiang, Yu, Pei, Ping, Ye, Huaicheng, Liu, Yingying, Hu, Xunwu, Meng, Xueying, Zhou   +11 more
openaire   +2 more sources