Article
MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
American journal of human genetics - 1 Sept 2003
King Richard A, Willaert Rebecca K, Schmidt Ramona M, Pietsch Jacy, Savage Sarah, Brott Marcia J, Fryer James P, Summers C Gail, Oetting William S
Abstract excerpt
The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is...
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