Albinism: from genetics to cell biology and physiopathology.

Abstract excerpt

Albinism classically encompasses several forms: oculocutaneous (OCA), ocular (OA1 and Foveal hypoplasia optic nerve decussation defect anterior segment dysgenesis syndrome [FHONDA]), and syndromic (Hermansky-Pudlak syndrome [HPS], Chediak-Higashi syndrome [CHS]), with all being autosomal recessive except X-linked recessive OA1. Twenty-one genes are identified to date, with OCA1 being most common in Europeans or...

Topics

• Humans
• Albinism
• Hermanski-Pudlak Syndrome
• Mutation
• Cell Biology
• Melanins
• Chediak-Higashi Syndrome