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KIF21A pathogenic variants cause Congenital Fibrosis of Extraocular Muscles type 3
BACKGROUND: Congenital fibrosis of the extraocular muscles(CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variabl...
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| Pubblicato in: | Ophthalmic Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7987873/ https://ncbi.nlm.nih.gov/pubmed/33251926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1852576 |
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