Associated Papers
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Paparella A et al.
Journal of Human Genetics, 2022
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
[Genetic and environmental aspects of mathematical disabilities].
Kanzafarova RF et al.
Genetika, 2015
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
Tucci V et al.
The Journal of Clinical Investigation, 2014
Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children.
Ji Y et al.
Child Neurology Open, 0
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