Affiliation: Helsinki University Central Hospital
- Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomalySirpa Ala-Mello
Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
Am J Med Genet A 146:2490-4. 2008..In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p...
- Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patientsLinda Siggberg
Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland
Am J Med Genet A 152:1398-410. 2010..This study demonstrates the benefits of array CGH in clinical diagnostics of developmental disorders. Further, our findings give evidence of new syndromes...