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

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...

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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)
Format:	Book
Published:	BMC, 2019-07-01T00:00:00Z.
Subjects:	article
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