We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in theMATPgene.
- Authors
Suzuki, T.; Inagaki, K.; Fukai, K.; Obana, A.; Lee, S-T.; Tomita, Y.
- Abstract
This article presents the case report of a patient with oculocutaneous albinism. The patient was an 11-year boy of Korean ethnicity. He had blue irides with nystagmus, virtually white skin with no apparent tanning ability, and light yellow hair. Visual acuity was 20 .100. There was no consanguinity, and his two siblings were unaffected. In Korea, the frequencies of autosomal recessive disorders are relatively low, because Korean people have maintained a custom of avoiding consanguineous marriage since the fourteenth century and most families have preserved their own family trees.
- Subjects
ALBINOS &; albinism; PIGMENTATION disorders; MULTICULTURALISM; OCCUPATIONAL diseases; VISUAL acuity; HEREDITY
- Publication
British Journal of Dermatology, 2005, Vol 152, Issue 1, p174
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.2005.06403.x