Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature

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 correlati...

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Bibliographic Details
Main Authors: Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala, Damjan Osredkar
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
beta-catenin
loss of function mutation
intellectual disability
hypotonia
microcephaly
eye movement disorders
Online Access:https://www.mdpi.com/1422-0067/23/20/12564

Internet

https://www.mdpi.com/1422-0067/23/20/12564

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