From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the CTNNB1 gene. Due to paucity of data,...

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Detalles Bibliográficos
Autores principales: Onesimo, Roberta, Sforza, Elisabetta, Trevisan, Valentina, Leoni, Chiara, Giorgio, Valentina, Rigante, Donato, Kuczynska, Eliza Maria, Proli, Francesco, Agazzi, Cristiana, Limongelli, Domenico, Digilio, Maria Cistina, Dentici, Maria Lisa, Macchiaiolo, Maria, Novelli, Antonio, Bartuli, Andrea, Sinibaldi, Lorenzo, Tartaglia, Marco, Zampino, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606760/
https://www.ncbi.nlm.nih.gov/pubmed/37895192
http://dx.doi.org/10.3390/genes14101843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606760/
https://www.ncbi.nlm.nih.gov/pubmed/37895192
http://dx.doi.org/10.3390/genes14101843

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