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Article

Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.

The Journal of clinical endocrinology and metabolism - 1 Jan 1999

Kopp P, Arseven O K, Sabacan L, Kotlar T, Dupuis J, Cavaliere H, Santos C L, Jameson J L, Medeiros-Neto G

Abstract excerpt

Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred's syndrome, PDS (Pendred's syndrome gene), was cloned very recently and encodes the putative sulfate transporter pendrin...

Topics

Adult
Brazil
Carrier Proteins
DNA
Deafness
Female
Genetic Linkage
Genotype
Goiter
Humans
Male
Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Sulfate Transporters

Syndrome

Source

Identifiers

PMID: 9920104
DOI: 10.1210/jcem.84.1.5398

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9920104-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.PMID 9920104Read ↗

Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendred's Syndrome Associated with a Novel Mutation in the PDS GeneSemantic proximity Read ↗

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Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.Semantic proximity Read ↗

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Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?Semantic proximity Read ↗

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