Human and mouse disorders of pigmentation.
Disorders of pigmentation were among the first genetic diseases ever recognized because of their visually striking clinical phenotypes, resulting from defects of pigmentary melanocytes. Recent years have seen remarkable progress in understanding these diseases, largely as a result of the systematic parallel study of human patients and inbred mice with similar phenotypes. Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival.
Spritz
Richard A
RA
Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E Ninth Ave, B161, Denver, Colorado 80262, USA. richard.spritz@uchsc.edu
Chiang
Pei Wen
PW
Oiso
Naoki
N
Alkhateeb
Asem
A
D000818:Animals; D002454:Cell Differentiation / Q000502:physiology; D006801:Humans; D008544:Melanocytes / Q000502:physiology; D051379:Mice; D010859:Pigmentation Disorders / Q000235:genetics* / Q000503:physiopathology