Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the
skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with …

Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL)
and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype …

Mice with mutations at the microphthalmia(mi) locus have some or all of the following
defects: loss of pigmentation, reduced eye size, failureof secondary bone resorption …

We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome)
is the chromosome 2 locus rearranged by the t (2; 13)(q35; q14) translocation of the …

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by
sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other …

MITF (m icrophthalmia–associated t ranscription f actor) encodes a transcription factor with a
basic–helix–loop–helix–zipper (bHLH–Zip) motif. MITF mutations occur in patients with …

The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant
hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and …

One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such
as Waardenburg syndrome (WS) or probable neurocristopathies were screened for …

Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most
common cause of syndromic hearing loss (HL), which accounts for approximately 2–5% of …

Transcription factors initiate programs of gene expression and are catalysts in downstream
molecular cascades that modulate a variety of cellular processes. Pax3 is a transcription …