Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events involving imprinted genes at chromosome 11p15.5. Thus, germline mutations in CDKN1C, uniparental disomy (UPD), and loss of imprinting of IGF2 and other imprinted genes have been implicated....

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Autori principali: Engel, J., Smallwood, A., Harper, A., Higgins, M., Oshimura, M., Reik, W., Schofield, P., Maher, E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2000
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734494/
https://ncbi.nlm.nih.gov/pubmed/11106355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.12.921
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