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

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

Annales de genetique - 1 Jan 2000

Verri Annapia, Maraschio Paola, Devriendt Koen, Uggetti Carla, Spadoni Emanuela, Haeusler Edward, Federico Antonio

Abstract excerpt

Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the...

Read the complete abstract on PubMed

Topics

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

Share to Basal Ganglia Diseases
Share to Calcinosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to GATA3 Transcription Factor

Share to Hearing Loss, Bilateral

Share to Hypocalcemia

Share to Hypoparathyroidism

Share to Language Disorders

Share to Muscle Hypotonia

Source

Identifiers

PMID: 15337474
DOI: 10.1016/j.anngen.2004.03.001

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.PMID 15337474Read ↗

Clinical description of a patient carrying the smallest reported deletion involving 10p14 regionSemantic proximity Read ↗

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.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 ↗

HDR syndrome: a novel "de novo" mutation in GATA3 gene.Semantic proximity Read ↗

22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man.Semantic proximity Read ↗

10p12.1 deletion: HDR phenotype without DGS2 features.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 ↗

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.Semantic proximity Read ↗

Extrapyramidal symptoms and advanced calcification of the basal ganglia in a patient with autosomal dominant hypocalcemia.Semantic proximity Read ↗

Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability.Semantic proximity Read ↗

Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction.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 ↗

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