Article
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clinical genetics - 1 Feb 2023
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
Abstract excerpt
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 contribution of CNOT2 haploinsufficiency to the latter. CNOT2 is a member of the CCR4-NOT complex, which is a master...
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