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Identification of 12 OCA Cases in Chinese Population and Two Novel Variants

OCA (oculocutaneous albinism) refers to a group of heterogeneous congenital disorders of which the common manifestations are variable degrees of cutaneous hypopigmentation and significant visual impairment, including poor visual acuity, photophobia, and nystagmus. Molecular analysis may elucidate it...

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Detalles Bibliográficos
Autores principales:	Zhong, Zilin, Zhou, Zheng, Chen, Jianjun, Zhang, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340472/ https://www.ncbi.nlm.nih.gov/pubmed/35923705 http://dx.doi.org/10.3389/fgene.2022.926511

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