|
|||||
|
|
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features,epilepsy, aganglionosis,pure red cell aplasia,and skeletal malformations |
|
| Authors: | Antonio Bravo‐Oro Iosif W. Lurie Gabriela Elizondo‐Cárdenas Claudia Peña‐Zepeda Abel Salazar‐Martínez Cecilia Correa‐González José Luis Castrillo Silvia Avila Carmen Esmer |
| Affiliation: | 1. Hospital Central “Dr. Ignacio Morones Prieto“, San Luis Potosí, Mexico;2. Chromosome Disorder Outreach, Boca Raton, Florida, USA;3. Universidad Autónoma de Nuevo León, Monterrey, Mexico;4. Laboratorio Genetadi Biotech, Bizkaia, Spain |
| Abstract: | |
| Keywords: | 2q22.3 q23.3 deletion hirschsprung disease aplastic anemia brachydactyly A1 array‐comparative genomic hybridization (CGH) |