The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? [electronic resource]
Producer: 20140326Description: 2158-66 p. digitalISSN:- 1552-4833
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Duplication
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Comparative Genomic Hybridization
- Facies
- Female
- Gene Dosage
- Histone Methyltransferases
- Histone-Lysine N-Methyltransferase
- Humans
- Intracellular Signaling Peptides and Proteins -- genetics
- Male
- Nuclear Proteins -- genetics
- Phenotype
- Polymorphism, Single Nucleotide
- Sotos Syndrome -- diagnosis
- Young Adult
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Publication Type: Case Reports; Journal Article
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