The phylogenetically ancient SLC26 gene family encodes multifunctional anion exchangers
and anion channels transporting a broad range of substrates, including Cl−, HCO3−, sulfate …

The hypothalamus‐pituitary‐thyroid (HPT) axis determines the set point of thyroid hormone
(TH) production. Hypothalamic thyrotropin‐releasing hormone (TRH) stimulates the …

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 …

Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

This article is a review of the genes and genetic disorders that affect hearing in humans and
a few selected mouse models of deafness. Genetics is playing an increasingly critical role in …

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

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 …

Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most
common inner ear malformation identified in patients with sensorineural hearing loss. EVA is …