The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow, Nicola

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome? [electronic resource] - American journal of medical genetics. Part A Sep 2013 - 2158-66 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36046 doi


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