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- W648461196 abstract "We present an 8-month-old boy with severe retinal detachment from familial exudative vitreoretinopathy (FZD4 exon 1 deletion). He was subsequently diagnosed with spinal muscular atrophy with SMN1 deletion. β-catenin signaling is dysregulated in both disorders, so we hypothesize that the co-occurrence may have exacerbated the vitreoretinal phenotype." @default.
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- W648461196 date "2015-10-21" @default.
- W648461196 modified "2023-09-24" @default.
- W648461196 title "Association of Autosomal Dominant Familial Exudative Vitreoretinopathy and Spinal Muscular Atrophy" @default.
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- W648461196 doi "https://doi.org/10.5301/ejo.5000639" @default.
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