Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15....

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Autors principals: Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Yates, John R. W., Woods, C. Geoffrey, Reik, Wolf, Maher, Eamonn R.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2009
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2650258/
https://ncbi.nlm.nih.gov/pubmed/19300480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000423
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