Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.

Molecular genetics & genomic medicine - 1 May 2020

Yu Sha, Chen Wen-Xia, Lu Wei, Chen Chao, Ni Yihua, Duan Bo, Wang Bin, Wang Huijun, Xu Zheng-Min

Abstract excerpt

BACKGROUND: Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was to identify the underlying genetic cause of a patient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to GATA3 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Heterozygote

Share to Hypercalciuria

Share to Hypoparathyroidism

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32155322
DOI: 10.1002/mgg3.1222
PMCID: PMC7216807

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.PMID 32155322Read ↗

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.Semantic proximity Read ↗

A rare cause of primary hypoparathyroidism due to a novel mutation in the GATA3 gene – the Barakat syndromeSemantic proximity Read ↗

Barakat syndrome revisitedSemantic proximity Read ↗

[Analysis of clinical diagnosis, treatment, and pathogenic variants of hypoparathyroidism- sensorineural deafness-renal dysplasia (HDR) syndrome].Semantic proximity Read ↗

Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.Semantic proximity Read ↗

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.Semantic proximity Read ↗

[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].Semantic proximity Read ↗

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.Semantic proximity Read ↗

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome.Semantic proximity Read ↗

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.Semantic proximity Read ↗

Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.Semantic proximity Read ↗

SLC34 mutation: Personal experience with six families and literature reviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.