Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations of KIF21A or TUBB3. A...

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Pubblicato in:Int J Mol Sci
Autori principali: Thomas, Mervyn G., Maconachie, Gail D. E., Kuht, Helen J., Chan, Wai-Man, Sheth, Viral, Hisaund, Michael, McLean, Rebecca J., Barry, Brenda, Al-Diri, Bashir, Proudlock, Frank A., Tu, Zhanhan, Engle, Elizabeth C., Gottlob, Irene
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7961960/
https://ncbi.nlm.nih.gov/pubmed/33806565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22052575
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