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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… Click to show full 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 of help in the classification of OCA subtypes and the study of OCA pathogenesis．
Keywords:
diagnosis;
albinism;
oculocutaneous albinism;
analysis prenatal;
genetic analysis
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
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Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
Link to full text (if available)
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recommendations!