Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the
distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained …

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 …

Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of
deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is …

Here we present the results of a study performed on 59 patients affected by Waardenburg
syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated …

Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying
combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin …

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 disorder characterized by distinctive facial features,
pigment disturbances, and sensorineural deafness. There are four WS subtypes. WS1 is …

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
| Journal of Medical Genetics Skip to main content Viewing from: Google Indexer BMJ Journals …

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease
accounting for> 2% of the congenitally deaf population. It is characterized by deafness in …

MITF (microphthalmia-associated transcription factor) is a basic-helix–loop–helix–leucine
zipper (bHLHZip) factor which regulates expression of tyrosinase and other melanocytic …