Associated Papers
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L et al.
Clinical Genetics, 2023
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Rossetti LZ et al.
Molecular Genetics & Genomic Medicine, 2021
33350591 (PubMed )
Supplement: MGG3-9-e1542-s002.xlsx › All_Patients_in_Literature
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.
Coussa RG et al.
Ophthalmic Genetics, 2020
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
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