Molecular basis of human piebaldism.

doi:10.1111/1523-1747.ep12399455

Back to search

Article

Molecular basis of human piebaldism.

The Journal of investigative dermatology - 1 Nov 1994

Spritz R A

Abstract excerpt

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryoni...

Topics

Genes
Humans
Mutation
Phenotype
Piebaldism
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-kit
Receptor Protein-Tyrosine Kinases
Receptors, Colony-Stimulating Factor

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.