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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Hereditary hypopigmentation disorders[1]

Hereditary hypopigmentation disorders[1]
Mechanism Disorder Genes
Melanoblast development and migration from neural crest

Piebaldism

Waardenburg syndrome 1 to 4

PAX3, SOX10, MITF, KIT, EDN3, EDNRB, SLUG (SNAI2), endothelin 1 and 3, E-cadherin, HGF, FGF

Melanin synthesis in melanosome Oculocutaneous albinism types 1 to 4 TYR, OCA2, TYRP-1, SLC45A2, SLC24A5, C10orf11
Melanosome formation in melanocytes

Hermansky-Pudlak syndrome 1 to 7

Chediak-Higashi syndrome
HPS1-8, DTNBP1, BLOC1S3, CHS1/LYST
Mature melanosome transport to the tips of the dendrites Griscelli syndrome types 1 to 3 MYO5A, RAB27A, MLPH
Reference:
  1. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol 2009; 18:741.
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