Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Phenotypic evaluation of patients with Pendred syndrome].

Otolaryngologia polska = The Polish otolaryngology - 1 Jan 2008

Maciaszczyk Katarzyna, Pniewska-Siark Barbara, Gajewicz Witold, Stefańczyk Ludomir, Durko Tomasz, Lewiński Andrzej, Pajor Anna

Abstract excerpt

INTRODUCTION: The Pendred syndrome (PS) is an autosomally recessively inherited disease. Its diagnosis requires identification of the classical triad of symptoms, including hypoacusis, thyroid goitre and iodine organification defect in the thyroid, which may lead to thyroid functional disorders o...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Evoked Potentials, Auditory, Brain Stem
Share to Goiter
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Poland

Share to Syndrome

Share to Thyroid Gland

Share to Vestibular Diseases

Share to Young Adult

Source

Identifiers

PMID: 19205523
DOI: 10.1016/S0030-6657(08)70351-2

Genes

ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19205523-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotypic evaluation of patients with Pendred syndrome].PMID 19205523Read ↗

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].Semantic proximity Read ↗

[Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].Semantic proximity Read ↗

Pendred syndrome.Semantic proximity Read ↗

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.Semantic proximity Read ↗

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.Semantic proximity Read ↗

Pendred syndrome in Tunisia.Semantic proximity Read ↗

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 ↗

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.Semantic proximity Read ↗

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.Semantic proximity Read ↗

[Current status and perspectives of the research in Pendred syndrome].Semantic proximity Read ↗

Pendred syndrome.Semantic proximity Read ↗

Clinical and molecular characteristics of Pendred syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.