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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Vydáno v:Am J Med Genet A
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup: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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