Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

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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Bibliographic Details
Main Authors: Esther Meyer, Derek Lim, Shanaz Pasha, Louise J Tee, Fatimah Rahman, John R W Yates, C Geoffrey Woods, Wolf Reik, Eamonn R Maher
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2009-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2650258?pdf=render

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