OCA-B - Oculocutaneous Albinism/Générique

Lack of pigments

Description: 
Lack of pigment production
Symptomes: 
White with pink skin, nose leather, paw pads, lips and either pink or red irises
Age d'aparition: 
From birth
Fréquence: 
Not available
Gène impliqué: 
SLC45A2
Mutation testée: 
c.1478G>A
Transmission: 
Autosomal Recessive
Brevet: 
-