Affiliation: The Children's Hospital of Philadelphia
- 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...