Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
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DOI: 10.1111/cge.14247
Abstract: 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… read more here.
Keywords: clinical profile; cnot2; cnot2 haploinsufficiency; idnadfs ... See more keywords