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Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review.
BMC Ophthalmol. 2023 May 30;23(1):241. doi: 10.1186/s12886-023-02965-7.
BMC Ophthalmol. 2023.
PMID: 37254066
Free PMC article.
Review.
CONCLUSIONS: The case presented here exhibited rare coexistence of MRCS syndrome, extremely long axis and XFS. The complexity of her ocular abnormalities brought challenges to surgical management, in which multidisciplinary collaboration is often required. Furthermo …
CONCLUSIONS: The case presented here exhibited rare coexistence of MRCS syndrome, extremely long axis and XFS. The complexity …
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, Chen J, Huang XF, Pan D, Lu B, Lu F, Qu J, Jin ZB.
Cai XB, et al.
Clin Genet. 2019 Jul;96(1):61-71. doi: 10.1111/cge.13541. Epub 2019 Apr 22.
Clin Genet. 2019.
PMID: 30945270
In conclusion, we uncover ARL2 as a novel candidate gene for MRCS syndrome and suggest a mitochondria-related mechanism of the first ARL2 variant through site-directed mutagenesis studies....
In conclusion, we uncover ARL2 as a novel candidate gene for MRCS syndrome and suggest a mitochondria-related mechanism of the …
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