Piebaldismus

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.

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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

OMIM.ORG article

Orphanet article

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