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

HDR syndrome: a novel "de novo" mutation in GATA3 gene.

American journal of medical genetics. Part A - 15 Feb 2009

Ferraris Silvio, Del Monaco Angelo Giovanni, Garelli Emanuela, Carando Adriana, De Vito Barbara, Pappi Patrizia, Lala Roberto, Ponzone Alberto

Abstract excerpt

Human GATA3 haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in which this transcription factor is expressed appears exquisitely sensitive to gene dosage. We report on a 14-year-old patient with symptomatic hypoparathyroidism, sensorineural bilateral deafness, unilateral renal dysplasia, bilateral palpebral ptosis, and...

Read the complete abstract on PubMed

Topics

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

Share to Blepharoptosis
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to GATA3 Transcription Factor

Share to Hearing Loss, Sensorineural

Share to Hypoparathyroidism

Share to Kidney

Share to Nystagmus, Pathologic

Source

Identifiers

PMID: 19248180
DOI: 10.1002/ajmg.a.32689

Genes

GATA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HDR syndrome: a novel "de novo" mutation in GATA3 gene.PMID 19248180Read ↗

Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome.Semantic proximity Read ↗

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).Semantic proximity Read ↗

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.Semantic proximity Read ↗

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.Semantic proximity Read ↗

A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.Semantic proximity Read ↗

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

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

A Missense GATA3 Mutation, Thr272Ile, Causes the Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeSemantic proximity Read ↗

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.Semantic proximity Read ↗

HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.Semantic proximity Read ↗

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndromeSemantic proximity Read ↗

Identification of a novel insertion mutation in GATA3 with HDR syndrome.Semantic proximity Read ↗

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