Piebaldism

Giebel LB et al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Thomas I et al. (2004) Piebaldism: an update.

BIELSCHOWSKY M et al. (1962) Studies on megacolon in piebald mice.

Sánchez-Martín M et al. (2003) Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Mahakrishnan A et al. (1980) Piebaldness with Hirschsprung's disease.

Reed WB et al. (1967) Pigmentary disorders in association with congenital deafness.

Funderburk SJ et al. (1974) Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Hoo JJ et al. (1986) Tentative assignment of piebald trait gene to chromosome band 4q12.

Hultén MA et al. (1987) Homozygosity in piebald trait.

Geissler EN et al. (1988) Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

Winship I et al. (1991) Piebaldism: an autonomous autosomal dominant entity.

Farag TI et al. (1992) A Bedouin kindred with 19 piebalds in 5 generations.

Lacassie Y et al. (1977) Piebald trait in a retarded child with interstitial deletion of chromosome 4.

Richards KA et al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation.

Spritz RA et al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome.

Yamamoto Y et al. (1989) Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

OMIM.ORG article

Orphanet article

Wikipedia article