Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

• Main Authors: Hairong Wang (Author), Yang Wan (Author), Yun Yang (Author), Hao Li (Author), Liangwei Mao (Author), Shuyang Gao (Author), Jingjing Xu (Author), Jing Wang (Author)
• 格式: 圖書
• 出版: BMC, 2019-07-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (OCA). Case presentation Here, we report an 11-month-old male proband fro...