Piebaldism

Piebaldism With Deafness: Molecular…
By Spritz RA, Beighton P
Related Articles Piebaldism with deafness: molecular evidence for an expanded syndrome… more… ...

Waardenburg's syndrome may be closely related to piebaldism. Klein-waardenburg syndrome refers to a disorder that also includes upper limb abnormalities.
Inheritance: audosomal dominant.
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Genetic mutations that disrupt the expression of PROTO-ONCOGENE PROTEIN C-KIT are associated with PIEBALDISM, while overexpression or constitutive activation of the c-kit protein-tyrosine kinase is associated with tumorigenesis. EC 2.7.11.-.

See also: Melanoma, Symptom, Albinism, Vitiligo, Skin Cancer