Disease: Epilepsy microcephaly skeletal dysplasia
- <em>CTCF</em>-Related Disorder
- <em>Cutis tricolor</em>: a literature review and report of five new cases
- Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
- Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation
- Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants