Article

Case Report: CTNNB1 Mutation Presenting with refractory Neonatal Pulmonary Hypertension

2026-02-11

Abstract excerpt

<title>Abstract</title> <p>β-catenin is a key component of the canonical Wnt signaling pathway. Germline mutations in the CTNNB1 gene, which encodes β-catenin, are linked to a spectrum of neurodevelopmental and physical abnormalities. These include Familial exudative vitreoretinopathy (FEVR), characterized by peripheral retinal avascularity, neovascularization, and fibrosis. Neurodevelopmental manifestations comm...

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Literature Corpus work: 70ad2db6-d681-5e62-bdf6-52f55f135307
DOI: 10.21203/rs.3.rs-8465666/v1

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