Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperplasia, embryonal tumours, adrenocortical cytomegaly, ear anomalies, visceromegaly...

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Detalhes bibliográficos
Main Authors: Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto, Marfil, Victoria Esteban, García-Miñaur, Sixto, Lapunzina, Pablo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060332/
https://ncbi.nlm.nih.gov/pubmed/21248736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.236
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