Publication | Open Access

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Somatic VariantMarshall-smith SyndromeNatural SciencesGeneticsGenetic DisorderMolecular BiologyDistinct EffectsMolecular GeneticsDisease Gene IdentificationAllelic Nfix MutationsMedicineGene Expression