Albinism: an update.
Albinism connotes a large group of genetic disorders that are characterized by diminished ocular and oftentimes cutaneous pigmentation. These disorders are generally subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA) based on the extent of their effects on the pigmentation of the skin and hair. Sometimes, different mutations in the same gene can cause OCA or OA.
Orlow
S J
SJ
New York University Medical Center, New York 10016, USA.
D000417:Albinism / Q000145:classification / Q000235:genetics / Q000473:pathology; D016117:Albinism, Ocular / Q000235:genetics / Q000473:pathology; D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics / Q000473:pathology; D005123:Eye / Q000473:pathology; D008040:Genetic Linkage; D006197:Hair / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics; D014443:Tyrosine / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D014443:Tyrosine