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Article

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome.

BMJ case reports - 8 Mar 2022

Tam Emily K, Laver Nora V, Thakore-James Manisha, Mooney Michael A, Daly Mary K, Lefebvre Daniel R

Abstract excerpt

Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a RHO GTPase that has a role for neural morphogenesis, however its effect on the eyes remains unknown. Here, we report a 44-year-old man who presented with eyelid swelling along with a history of bilateral hand contractures, high-arched feet and muscle wasting, who was found to have an ARHGEF-10 mutation. Neuroimaging was significant for numerous...

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Identifiers

PMID: 35260397
DOI: 10.1136/bcr-2021-245475
PMCID: PMC8905991

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