关键词: 5q35 deletion NSD1 gene Silver-Russell syndrome Sotos syndrome short stature
Mesh : Chromosome Deletion Chromosomes, Human, Pair 5 / genetics DNA Copy Number Variations / genetics DNA Methylation / genetics Genomic Imprinting / genetics Histone-Lysine N-Methyltransferase / genetics Humans Infant Infant, Newborn Male Phenotype Polymorphism, Single Nucleotide / genetics Silver-Russell Syndrome / complications diagnosis genetics pathology Sotos Syndrome / complications diagnosis genetics pathology
来 源:
DOI:10.1002/ajmg.a.61967
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