Article
Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.
Matrix biology : journal of the International Society for Matrix Biology - 1 Jun 2022
Mao Mao, Labelle-Dumais Cassandre, Tufa Sara F, Keene Douglas R, Gould Douglas B
Abstract excerpt
Ocular anterior segment dysgenesis (ASD) refers to a collection of developmental disorders affecting the anterior structures of the eye. Although a number of genes have been implicated in the etiology of ASD, the underlying pathogenetic mechanisms remain unclear. Mutations in genes encoding collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome, a multi-system disorder that often includes...
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