Article
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
International journal of molecular sciences - 19 Oct 2022
Miroševič Špela, Khandelwal Shivang, Sušjan Petra, Žakelj Nina, Gosar David, Forstnerič Vida, Lainšček Duško, Jerala Roman, Osredkar Damjan
Abstract excerpt
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by...
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