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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2014

Mejia Juan Diego, Cervantes Luisa, Puerta Herminia, Bauer Mislen, Diaz Alejandro

Abstract excerpt

Hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome (HDRS) is comprised of a triad of conditions. It is an autosomal dominant condition caused by mutations in the GATA3 gene, located at 10p15, a critical region in the development of the embryonic parathyroid glands, inner ear, and kidneys. Here we describe the case of a patient with all three components of HDR syndrome diagnosed in the...

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Source

Identifiers

PMID: 24859509
DOI: 10.1515/jpem-2014-0004

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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