Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Research in the genetics of hearing and deafness has evolved rapidly over the past years,
providing the molecular foundation for different aspects of the mechanism of hearing …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged
vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …

Hearing loss is the most common sensory disorder and because of its high genetic
heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

Abstract Background The 2015 American College of Medical Genetics and Genomics
(ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence …

Background: Congenital hypothyroidism (CH) is defined as the lack of thyroid hormones at
birth. Mutations in at least 15 different genes have been associated with this disease. While …