History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
| Autor: | Marzena Kucharczyk, Magdalena Pelc, Małgorzata Krajewska-Walasek, Aleksandra Jezela-Stanek, Elżbieta Ciara, Krystyna H. Chrzanowska, Anna Gutkowska |
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| Rok vydání: | 2012 |
| Předmět: |
Genotyping Techniques
Chromosome Disorders ANOTHER syndrome Pathology and Forensic Medicine Humans Medicine Genetics (clinical) Chromosomes Human Pair 14 Genetics Comparative Genomic Hybridization business.industry Infant Karyotype Syndrome General Medicine medicine.disease Phenotype Terminal (electronics) Karyotyping Pediatrics Perinatology and Child Health Female Chromosome Deletion Anatomy business Microsatellite Repeats Comparative genomic hybridization |
| Zdroj: | Clinical Dysmorphology. 21:97-100 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e32834e92b8 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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