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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Bibliografski detalji
Glavni autori: Engel, J., Smallwood, A., Harper, A., Higgins, M., Oshimura, M., Reik, W., Schofield, P., Maher, E.
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2000
Teme:
Original Articles
Online pristup: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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