In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies,
pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel …

β-Catenin signaling controls the development and maintenance of the blood–brain barrier
(BBB) and the blood–retina barrier (BRB), but the division of labor and degree of …

The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with
developmental delay, intellectual disability, and delayed or absent speech. The aim of the …

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes
blindness. FEVR has been linked to mutations in several genes associated with inactivation …

Purpose Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder
with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most …

Purpose Familial exudative vitreoretinopathy (FEVR) is a blindness-causing retinal vascular
disease characterized by incomplete vascularization of the peripheral retina and by the …

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
- Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe PMC Menu About …

Background Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder
with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have …

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision
loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential …