Cukrov et al., 2018 - Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. Human molecular genetics   27(17):3002-3011 Full text @ Hum. Mol. Genet.
4 Genes / Markers
Marker Type Symbol Name
Gene hsf4 heat shock transcription factor 4
Gene l3mbtl1 L3MBTL histone methyl-lysine binding protein 1
Gene ptprna protein tyrosine phosphatase receptor type Na
Gene smc1al structural maintenance of chromosomes 1A, like