Literature DB >> 28544518

Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Floor A M Postema1,2, Saskia M J Hopman1,3, Matthew A Deardorff2,4, Johannes H M Merks1, Raoul C Hennekam5.   

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Year:  2017        PMID： 28544518     DOI： 10.1002/ajmg.a.38290

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.

Authors:  M E Michel; D J Konczyk; K S Yeung; R Murillo; M P Vivero; A M Hall; D Zurakowski; D Adams; A Gupta; A Y Huang; B H Y Chung; M L Warman
Journal:  Clin Genet       Date:  2018-01-25       Impact factor: 4.438

2.  Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Authors:  Sofia Frisk; Fulya Taylan; Izabela Blaszczyk; Inger Nennesmo; Göran Annerén; Bettina Herm; Eva-Lena Stattin; Vasilios Zachariadis; Anna Lindstrand; Bianca Tesi; Tobias Laurell; Ann Nordgren
Journal:  Clin Genet       Date:  2019-05-09       Impact factor: 4.438
  2 in total

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