Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. [electronic resource]
Producer: 20180108Description: 31-35 p. digitalISSN:- 1873-3492
- 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
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Publication Type: Case Reports; Journal Article
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