Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
Qureshi HM et al.
Cerebral Cortex (new York, N.y. : 1991), 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
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 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
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.
Winczewska-Wiktor A et al.
Bmc Neurology, 2016
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