NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism
Background: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photophobia, and strabismus. OCA type 1 (OCA1) and type 2 (OCA2) a...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BioMed Central Ltd
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |