Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

BACKGROUND: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be of help in the classification of OCA...

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Detalles Bibliográficos
Autores principales: Xu, Chenyang, Xiang, Yanbao, Li, Huanzheng, Xu, Yunzhi, Mao, Yijian, Zhou, Lili, Xu, Xueqin, Tang, Shaohua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891544/
https://www.ncbi.nlm.nih.gov/pubmed/33124154
http://dx.doi.org/10.1002/jcla.23647

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