A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations
Author:
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
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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5. Mutations in the pre-replication complex cause Meier-Gorlin syndrome;Bicknell;Nature Genet,2011
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