Han, Ji Yoon

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