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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Detalhes bibliográficos
Main Authors: Grati, F R, Turolla, L, D'Ajello, P, Ruggeri, A, Miozzo, M, Bracalente, G, Baldo, D, Laurino, L, Boldorini, R, Frate, E, Surico, N, Larizza, L, Maggi, F, Simoni, G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
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Original Article
Acesso em linha: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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