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Article

HDR syndrome: Large cohort and systematic review.

Clinical genetics - 1 Nov 2024

Rive Le Gouard Nicolas, Lafond-Rive Valentin, Jonard Laurence, Loundon Natalie, Achard Sophie, Heidet Laurence, Mosnier Isabelle, Lyonnet Stanislas, Brioude Frederic, Serey Gaut Margaux, Marlin Sandrine

Abstract excerpt

HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28...

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Source

Identifiers

PMID: 38940299
DOI: 10.1111/cge.14583

Genes

GATA3

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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.

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HDR syndrome: Large cohort and systematic review.PMID 38940299Read ↗

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