Disease: Oculo skeletal renal syndrome
- A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
- A family with autosomal dominant oculo-auriculo-vertebral spectrum
- A new syndrome with cerebro-oculo-skeletal-renal involvement
- Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
- Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patients’
- Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach
- Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
- Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City
- Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients
- TFII-I and AP2α Co-Occupy the Promoters of Key Regulatory Genes Associated with Craniofacial Development
- The cerebro-oculo-facio-skeletal syndrome