Piebaldismus
Piebaldismus ist eine seltene Störung der Hautpigmentation, die sich durch hypo- und depigmentierte Areale auszeichnet. Ursächlich kommen für diese Störung Mutationen im KIT-Gen in Betracht.
Gliederung
Referenzen:
| 1. |
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. [^] |
| 2. |
Giebel LB et. al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. [^] |
| 3. |
Spritz RA et. al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome. [^] |
| 4. |
Richards KA et. al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation. [^] |
| 5. |
Lacassie Y et. al. (1977) Piebald trait in a retarded child with interstitial deletion of chromosome 4. [^] |
| 6. |
Farag TI et. al. (1992) A Bedouin kindred with 19 piebalds in 5 generations. [^] |
| 7. |
Winship I et. al. (1991) Piebaldism: an autonomous autosomal dominant entity. [^] |
| 8. |
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. [^] |
| 9. |
Hultén MA et. al. (1987) Homozygosity in piebald trait. [^] |
| 10. |
Hoo JJ et. al. (1986) Tentative assignment of piebald trait gene to chromosome band 4q12. [^] |
| 11. |
Funderburk SJ et. al. (1974) Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. [^] |
| 12. |
Reed WB et. al. (1967) Pigmentary disorders in association with congenital deafness. [^] |
| 13. |
Mahakrishnan A et. al. (1980) Piebaldness with Hirschsprung's disease. [^] |
| 14. |
Sánchez-Martín M et. al. (2003) Deletion of the SLUG (SNAI2) gene results in human piebaldism. [^] |
| 15. |
BIELSCHOWSKY M et. al. (1962) Studies on megacolon in piebald mice. [^] |
| 16. |
Thomas I et. al. (2004) Piebaldism: an update. [^] |
