Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism
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DOI: 10.1002/jcla.23647
Abstract: 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… read more here.
Keywords: diagnosis; albinism; oculocutaneous albinism; analysis prenatal ... See more keywords