Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. [electronic resource]
- Clinica chimica acta; international journal of clinical chemistry Jul 2017
- 31-35 p. digital
Publication Type: Case Reports; Journal Article
1873-3492
10.1016/j.cca.2017.04.025 doi
Brain--diagnostic imaging Child Codon, Nonsense Female Histone Methyltransferases Histone-Lysine N-Methyltransferase Humans Intracellular Signaling Peptides and Proteins--genetics Magnetic Resonance Imaging Male Nuclear Proteins--genetics Pedigree Phenotype Sotos Syndrome--diagnostic imaging Twins, Monozygotic--genetics