[source]
pmid = PMID:29050284
title = Mutational analysis of a Chinese family with oculocutaneous albinism type 2
[diagnosis]
disease_id = OMIM:203200
disease_label = Albinism, oculocutaneous, type II
[text]
Both the patients have yellow eyebrows and hair, milky skin, and heterochromia iridis, accompanied with photophobia,
impaired visual acuity, and nystagmus. On the other hand, unaffected family members present normal pigmentation.