Nephroblastomatosis or Wilms Tumor in a Fourth Patient With a Somatic PIK3CA Mutation

Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith–Wiedemann syndrome, mosaic chromosome or genomic abnormalities, or somatic point mutati...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Gripp, Karen W., Baker, Laura, Kandula, Vinay, Conard, Katrina, Scavina, Mena, Napoli, Joseph A., Griffin, Gregory C., Thacker, Mihir, Knox, Rachel G., Clark, Graeme R., Parker, Victoria E. R., Semple, Robert, Mirzaa, Ghayda, Keppler-Noreuil, Kim M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5514817/
https://ncbi.nlm.nih.gov/pubmed/27191687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37758
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