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

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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Bibliographic Details
Main Authors: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Oculocutaneous albinism
OCA2
Non-syndromic
Gross deletion
Targeted NGS
Online Access:http://link.springer.com/article/10.1186/s12881-019-0850-7

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http://link.springer.com/article/10.1186/s12881-019-0850-7

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