De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. [electronic resource]
- Cold Spring Harbor molecular case studies 06 2020
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2373-2873
10.1101/mcs.a004721 doi
Chromosomes, Human, Pair 19 Comparative Genomic Hybridization DNA Copy Number Variations Facies Family Female Gene Dosage Gene Duplication Gene Expression Profiling Genes, Essential Genetic Association Studies--methods Genetic Predisposition to Disease Humans Male Neurodevelopmental Disorders--diagnosis Pedigree Phenotype RNA, Messenger Siblings