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

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 from a Chi...

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Detalles Bibliográficos
Autores principales: Wang, Hairong, Wan, Yang, Yang, Yun, Li, Hao, Mao, Liangwei, Gao, Shuyang, Xu, Jingjing, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659248/
https://www.ncbi.nlm.nih.gov/pubmed/31345173
http://dx.doi.org/10.1186/s12881-019-0850-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659248/
https://www.ncbi.nlm.nih.gov/pubmed/31345173
http://dx.doi.org/10.1186/s12881-019-0850-7

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