Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It is characterized by an unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations...

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Detalles Bibliográficos
Autores principales: Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316998/
https://www.ncbi.nlm.nih.gov/pubmed/35887841
http://dx.doi.org/10.3390/jcm11144078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316998/
https://www.ncbi.nlm.nih.gov/pubmed/35887841
http://dx.doi.org/10.3390/jcm11144078

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