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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Publicat a:Am J Med Genet A
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Article
Accés en línia: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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