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Pendred's syndrome

Known as: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B, pendreds syndrome, Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B 
National Institutes of Health

Related topics

Related topics

18 relations
Autosomal recessive inheritanceCompensated hypothyroidismCongenital HypothyroidismCongenital sensorineural hearing loss

Broader (2)

Nodular GoiterSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct
Abstract Background: Children with Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (NSEVA) represent a group… 
2013
2013
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide… 
2012
2012
Roles of 17‐AAG‐induced molecular chaperones and Rma1 E3 ubiquitin ligase in folding and degradation of Pendrin
2007
2007
SLC26A4 mutations are associated with a specific inner ear malformation.
2007
2007
Two common and three novel PDS mutations in Thai patients with Pendred syndrome
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired… 
2006
2006
The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and… 
Highly Cited
2004
Highly Cited
2004
Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations
Mutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder characterized by sensorineural deafness and goiter… 
2003
2003
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of… 
1999
1999
Sulfate transport is not impaired in pendred syndrome thyrocytes.
Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory… 
1998
1998
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness
In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have… 
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