Kosuke IzumiSummaryAffiliation: The Children's Hospital of Philadelphia Country: USA |
Detail Information
Publications
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic featuresKosuke Izumi
Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
Am J Med Genet A 155:1384-9. 2011..The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region...
