ArticleAnnals of pediatric endocrinology & metabolism2015
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation.
Article in Annals of pediatric endocrinology & metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.Endocrine journal · 2024Review
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia.JCEM case reports · 2023Article
- Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.BMC endocrine disorders · 2019Article
- Clinical Auditory Phenotypes Associated withChinese medical journal · 2017Article
- A Mendelian randomization study of the effect of calcium on coronary artery disease, myocardial infarction and their risk factors.Scientific reports · 2017Article
- Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children.Iranian journal of otorhinolaryngology · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.
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