Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major...

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Detalles Bibliográficos
Autores principales: Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939052/
https://www.ncbi.nlm.nih.gov/pubmed/36224108
http://dx.doi.org/10.1111/cge.14247

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