The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …

The purpose of this review is to summarize current knowledge of the etiology of euthyroid
and toxic multinodular goiter (MNG) with respect to the epidemiology, clinical characteristics …

Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and
non-syndromic deafness in western populations. Although south and east Asia contain …

Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that
may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis …

▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …

Hereditary deafness has proved to be extremely heterogeneous genetically with more than
40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their
unaffected relatives from 31 families. A total of 84% of these families were Caucasian …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …

Given the unique biological requirements of sound transduction and the selective advantage
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …