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Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant
BACKGROUND: The genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality. METHODS: Two brothers with MED were referred to Leicester Royal Infirmary, UK from the local opticians. Their father had bilateral ptosis an...
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| 出版年: | Br J Ophthalmol |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6998158/ https://ncbi.nlm.nih.gov/pubmed/31302631 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2019-314293 |
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