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Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome
BACKGROUND: The phenotypic variability in Beckwith–Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype–phenotype correlation studies have demonstrated an association between omphalocoele and CDK...
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| Main Authors: | , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMJ Group
2007
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2598040/ https://ncbi.nlm.nih.gov/pubmed/17259293 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.046854 |
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