ArticlePediatric nephrology (Berlin, Germany)2011
Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.
Article in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Hypomagnesemia in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome Caused by Pathogenic Variants ofKidney international reports · 2026Article
- A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.Endocrine journal · 2024Review
- HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report.World journal of clinical cases · 2024Article
- A novelMolecular genetics and metabolism reports · 2024Article
- Hypocalcemia not related to chronic kidney disease: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Clinical Auditory Phenotypes Associated withChinese medical journal · 2017Article
- A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.Journal of clinical research in pediatric endocrinology · 2015Article
- Vitamin D deficiency in a patient with HDR syndrome.BMJ case reports · 2015Article
- The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.Yonsei medical journal · 2015Article
- GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.World journal of pediatrics : WJP · 2014Article
- Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.European journal of pediatrics · 2013Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium, indicating renal magnesium loss. This is the first published report of hypomagnesemia in association with HDR syndrome.
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