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A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1
Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and per...
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| Publicado no: | Mol Med Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6896309/ https://ncbi.nlm.nih.gov/pubmed/31746431 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10813 |
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