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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,...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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