Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe, Michi Tanaka, Yoshinori Miyamura, Shiro Ito, Yasushi Tomita The American Journal of Human Genetics Volume 74, Issue 3, Pages 466-471 (March 2004) DOI: 10.1086/382195 Copyright © 2004 The American Society of Human Genetics Terms and Conditions
Figure 1 The diverse clinical phenotypes of patients with OCA4. Both patients are 1-year-old Japanese girls. Patient 36, with D157N and V507L mutations, has blond hair and gray-blue irides (A). Patient 51, with D157N and S90CGGCCA→GC mutations, has light yellow hair and blue irides (B). Note the milder hypopigmentation of patient 36 compared with that of patient 51. The American Journal of Human Genetics 2004 74, 466-471DOI: (10.1086/382195) Copyright © 2004 The American Society of Human Genetics Terms and Conditions