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UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
Authors:G Garza-Mayén  V Ulloa-Avilés  CE Villarroel  P Navarrete-Meneses  E Lieberman-Hernández  M Abreu-González  L Márquez-Quiroz  C Azotla-Vilchis  JC Cifuentes-Goches  V Del Castillo-Ruiz  C Durán-McKinster  P Pérez-Vera  C Salas-Labadía
Institution:8. Children''s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada;9. Department of Genetics, Children''s Hospital of Eastern Ontario, Ottawa, ON, Canada;1. Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada;2. Children''s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada;3. Department of Genetics, Children''s Hospital of Eastern Ontario, Ottawa, ON, Canada;4. Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada;5. Department of Pathology and Laboratory Medicine, Children''s Hospital of Eastern Ontario, Ottawa, ON, Canada;6. Department of Pediatrics, Children''s Hospital of Eastern Ontario, Ottawa, ON, Canada;7. Newborn Screening Ontario, Children''s Hospital of Eastern Ontario, Ottawa, ON, Canada
Abstract:
Keywords:Temple syndrome  Maternal uniparental disomy  Long-contiguous stretch of homozygosity  Supernumerary marker chromosome  Partial trisomy 14  Hypomethylation
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