Disease: Short stature microcephaly seizures deafness
- 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
- Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
- Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
- Molecular characterization of <em>de novo</em> ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies
- Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies
- Neurological manifestations in xeroderma pigmentosum