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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

Papers overview

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2019
2019
Abstract Background: Children with Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (NSEVA) represent a group… 
2013
2013
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide… 
2007
2007
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired… 
2006
2006
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and… 
Highly Cited
2004
Highly Cited
2004
Mutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder characterized by sensorineural deafness and goiter… 
2003
2003
Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of… 
1999
1999
Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory… 
1998
1998
In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have…