Tenorio, Jair

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. [electronic resource] - Clinical genetics 03 2020 - 467-476 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/cge.13689 doi


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