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Article

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

International journal of molecular sciences - 4 Mar 2021

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

Abstract excerpt

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. Although spatiotemporal expression studies have shown KIF21A and TUBB3 expression in developing retinal ganglion...

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Identifiers

PMID: 33806565
DOI: 10.3390/ijms22052575
PMCID: PMC7961960

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