Article

Defective CAPSL function causes impaired retinal angiogenesis through the MYC axis and is associated with familial exudative vitreoretinopathy

2024-02-24

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a severe genetic disorder characterized by incomplete vascularization of the peripheral retina and associated symptoms that can lead to vision loss. However, the underlying genetic causes of approximately 50% of FEVR cases remain unknown. Here, we report two heterozygous variants, c.88C > T (p.Arg30Ter) and c.247C > T (p.Leu83Phe), in calcyphosine like ( CAPSL ), fro...

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Literature Corpus work: f52c1635-5c4f-52e5-921c-db020abb33b3
DOI: 10.1101/2024.02.22.24303109

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