Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. [electronic resource]
Producer: 20210204Description: 467-476 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Child
- Chromosome Deletion
- Chromosome Duplication -- genetics
- Chromosomes, Human, Pair 19 -- genetics
- Comparative Genomic Hybridization
- Developmental Disabilities -- genetics
- Female
- Humans
- Intellectual Disability -- genetics
- Male
- Megalencephaly -- genetics
- Microcephaly -- pathology
- Phenotype
- Poly-ADP-Ribose Binding Proteins -- genetics
- Protein Inhibitors of Activated STAT -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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