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Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene.

Magnetic resonance imaging - 1 Jan 2004

Naganawa Shinji, Koshikawa Tokiko, Fukatsu Hiroshi, Ishigaki Taekeo, Sato Eisuke, Sugiura Makoto, Yoshino Takahiko, Nakashima Tsutomu

Abstract excerpt

Pendred syndrome (PDS) is characterized by profound deafness in childhood, positive perchlorate challenge, and goiter. PDS is often associated with enlarged endolymphatic duct and sac (EEDS), and recently, PDS gene mutations have been reported even in those patients with EEDS without classic Pendred syndrome. In a previous report, the number of mutant alleles was correlated with the degree of subclinical thyroid...

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PMID: 14972391
DOI: 10.1016/j.mri.2003.07.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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