Coussa RG et al. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic Genet. 2020;41:63-8. PMID: 32039639.
de Ligt J et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921-9. PMID: 23033978.
Dixon MW et al. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. Ophthalmic Genet. 2016;37:468-70. PMID: 26967979.
Dubruc E et al. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A. 2014;164A:1571-5. PMID: 24668549.
Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29:1-14. PMID: 25323851.
Ho S et al. CTNNB1-related neurodevelopmental disorder in a Chinese population: a case series. Am J Med Genet A. 2021. PMID: 34558805.
Jin SC et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020;52:1046-56. PMID: 32989326.
Karolak JA et al. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019;96:366-70. PMID: 31309540.
Ke Z et al. Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly. Front Pediatr. 2020;8:575673. PMID: 33425807.
Kharbanda M et al. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. Eur J Med Genet. 2017;60:130-5. PMID: 27915094.
Kuechler A et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015;134:97-109. PMID: 25326669.
Li N et al. Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. Medicine (Baltimore). 2017;96:e6914. PMID: 28514307.
Panagiotou ES et al. Defects in the Cell Signaling Mediator beta-Catenin Cause the Retinal Vascular Condition FEVR. Am J Hum Genet. 2017;100:960-8. PMID: 28575650.
Rossetti LZ et al. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021;9:e1542. PMID: 33350591.
Sun W et al. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease. Invest Ophthalmol Vis Sci. 2019;60:93-7. PMID: 30640974.
Tucci V et al. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest. 2014;124:1468-82. PMID: 24614104.
Wang H et al. Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects. Neurol Sci. 2019;40:1701-4. PMID: 30929091.
Winczewska-Wiktor A et al. A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. BMC Neurol. 2016;16:35. PMID: 26968164.
CTNNB1