Molecular analysis of the PDS gene in Pendred syndrome.

doi:10.1093/hmg/7.7.1105

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Article

Molecular analysis of the PDS gene in Pendred syndrome.

Human molecular genetics - 1 Jul 1998

Coyle B, Reardon W, Herbrick J A, Tsui L C, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps P D, Luxon L, Kendall-Taylor P, Scherer S W, Trembath R C

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organifie...

Topics

DNA Mutational Analysis
DNA, Complementary
Female
Genes
Goiter
Haplotypes
Hearing Loss, Sensorineural
Humans
Loss of Heterozygosity
Male
Mutation
Pedigree
Syndrome
Thyroid Gland

Source

Open in PubMed

Identifiers

PMID: 9618167
DOI: 10.1093/hmg/7.7.1105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9618167-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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