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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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| Publicado no: | PLoS Genetics |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Publicado em: |
Public Library of Science (PLoS)
2009-03-01
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| Acesso em linha: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000423&type=printable |
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