@article{oai:nagoya.repo.nii.ac.jp:00006907, author = {Tomita, Yasushi and Suzuki, Tamio}, issue = {1}, journal = {American Journal of Medical Genetics Part C: Seminars in Medical Genetics}, month = {}, note = {The molecular bases of various types of congenital pigmentary disorders have been clarified in the past ten years, as follows. (1) Disorders of melanoblast migration from the neural crest into the skin in embryo (and their disease genes), piebaldism (c-kit); Waardenburg Syndrome (WS) 1 and 3(PAX3); WS2(MITF); WS4(SOX10; END3 / ENDRB); dyschromatosis hereditaria symmetrica (DSRAD). (2) Disorders of melanosome formation in the melanocyte (and their disease gene), Hermanshy-Pudlak Syndrome (HPS)1(HPS1); HPS2(ADTB3A); HPS3(HPS3); HPS4(HPS4); HPS5(HPS5); HPS6(HPS6); Chediak-Higashi Syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome (and their disease genes), oculocutaneous albinism(OCA)1 (TYR); OCA2 (P); OCA3 (TRP1); OCA4 (MATP). (4) Disorders of mature melanosome transfer to the tips of dendrites (and their disease genes), Griscelli syndrome (GS)1 (MYO5A); GS2(RAB27A). These disorders are explained phenotypically and discussed pathogenetically.}, pages = {75--81}, title = {Genetics of pigmentary disorders}, volume = {131C}, year = {2004} }