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

1999-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2c6f38af-d08e-52e4-834a-36c68cb8c74e
DOI: 10.1210/jc.84.1.336

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendred's Syndrome Associated with a Novel Mutation in the PDS GeneDOI 10.1210/jc.84.1.336Read

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.Semantic proximity Read

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.Semantic proximity Read

Pendred's Syndrome: Identification of the Genetic Defect a Century After Its RecognitionSemantic 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

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.Semantic proximity Read

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

Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.Semantic proximity Read

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

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].Semantic proximity Read

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).Semantic proximity Read

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.Semantic proximity Read

Pendred syndrome.Semantic proximity Read