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....

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Yates, John R. W., Woods, C. Geoffrey, Reik, Wolf, Maher, Eamonn R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2009
Pynciau:
Research Article
Mynediad Ar-lein: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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