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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 embryonic growth factor, Steel factor. Several pathologic mutations of the KIT gene have now been identified in different...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7525736
DOI: 10.1111/1523-1747.ep12399455

Genes

KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Click a neighbor to travelStep 1 · 12 closest

Molecular basis of human piebaldism.PMID 7525736Read ↗

Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.Semantic proximity Read ↗

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.Semantic proximity Read ↗

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.Semantic proximity Read ↗

Piebaldism.Semantic proximity Read ↗

KIT-related piebaldism in a Chinese girl.Semantic proximity Read ↗

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.Semantic proximity Read ↗

Human piebaldism: six novel mutations of the proto-oncogene KIT.Semantic proximity Read ↗

Deletion of the c-kit protooncogene in the human developmental defect piebald trait.Semantic proximity Read ↗

Human piebaldism: relationship between phenotype and site of kit gene mutation.Semantic proximity Read ↗

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.Semantic proximity Read ↗

The molecular basis of human piebaldism.Semantic proximity Read ↗

Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.Semantic proximity Read ↗

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