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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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Detalles Bibliográficos
Autores principales: Miroševič, Špela, Khandelwal, Shivang, Sušjan, Petra, Žakelj, Nina, Gosar, David, Forstnerič, Vida, Lainšček, Duško, Jerala, Roman, Osredkar, Damjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604177/
https://www.ncbi.nlm.nih.gov/pubmed/36293418
http://dx.doi.org/10.3390/ijms232012564

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