High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European journal of …, 2007 - academic.oup.com
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene

U Napiontek, G Borck, W Müller-Forell… - The Journal of …, 2004 - academic.oup.com
Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for
more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral …

[HTML][HTML] Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene

A Lofrano-Porto, GB Barra, PP Nascimento… - … de Endocrinologia & …, 2008 - SciELO Brasil
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by
sensorineural deafness, goiter and iodide organification defect. The hearing loss is …

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

E Cama, MS Alemanno, E Bellacchio… - International journal of …, 2009 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by congenital
sensorineural deafness, goitre and defective iodide organification. Congenital and profound …

Genetics and phenomics of Pendred syndrome

A Bizhanova, P Kopp - Molecular and cellular endocrinology, 2010 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

A Pera, S Dossena, S Rodighiero… - Proceedings of the …, 2008 - National Acad Sciences
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan

CC Lai, CY Chiu, AS Shiao, YC Tso, YC Wu, TY Tu… - Metabolism, 2007 - Elsevier
Pendred syndrome (PS) is an autosomal recessive disease that is characterized by
congenital sensorineural hearing loss, goiter, and a partial iodine organification defect. In …

Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis

P Kühnen, S Turan, S Fröhler, T Güran… - The Journal of …, 2014 - academic.oup.com
Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can
occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to …

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies

F Palos, MER Garcia-Rendueles… - The Journal of …, 2008 - academic.oup.com
Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …

Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia

P Kopp - The Journal of Clinical Endocrinology & Metabolism, 2014 - academic.oup.com
Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural
deafness, goiter, and a partial defect in the organification of iodide (OMIM 274600; …