Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait - Abdel‐Salam, Ghada M. H.; Duan, Ruizhi; Abdel‐Hamid, Mohamed S.; Sayed, Inas S. M.; Jhangiani, Shalini N.; Khan, Ziad; Du, Haowei; Gibbs, Richard A.; Posey, Jennifer E.; Marafi, Dana; Lupski, James R. (American journal of medical genetics. Part A, 2022)
Keywords: Alleles; brain malformation; cataract; Cataracts; Codons; congenital heart disease; Homozygote; Humans; Intracellular Signaling Peptides and Proteins - genetics; Kinases; Microphthalmia; mRNA stability; mRNA turnover; Neurodevelopmental disorders; Nonsense Mediated mRNA Decay; nonsense‐mediated decay; Phenotype; Phenotypes; Phosphorylation; Protein interaction; Rare diseases; SMG8; Transcription; congenital heart disease; nonsense-mediated decay; cataract; microphthalmia; brain malformation; SMG8