Genetics of pigmentary disorders
- 27 September 2004
- journal article
- review article
- Published by Wiley in American Journal Of Medical Genetics Part C-Seminars In Medical Genetics
- Vol. 131C (1), 75-81
- https://doi.org/10.1002/ajmg.c.30036
Abstract
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1–4 (WS1–WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky–Pudlak syndrome 1–7 (HPS1–7); Chediak–Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1–4 (OCA1–4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1–3 (GS1–3). These disorders are presented and their gene mutations and pathogenesis are discussed.Keywords
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