Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis-Reference-Cited by-同舟云学术

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Published:2014-06-05 Issue:9 Volume:164 Page:2360-2364
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cohen Ana S. A.¹²,Townsend Katelin N.¹²,Xiang Qing‐San³,Attariwala Raj⁴,Borchers Christof⁵,Senger Christof⁶,Picker Wayne⁴,Levi Jasna⁷,Yewchuk Lila³,Tan Joelle¹²,Eydoux Patrice⁶⁸,Lum Amy⁹,Yong Siu‐Li¹,McKinnon Margaret L.¹,Lear Scott A.¹⁰,Everett Robert¹¹,Jones Steven J. M.¹¹²¹³,Yip Stephen⁹,Gibson William T.¹²^ORCID

Affiliation:

1. Department of Medical GeneticsUniversity of British ColumbiaVancouverBCCanada

2. Child and Family Research InstituteBritish Columbia Children's HospitalVancouverBCCanada

3. Department of RadiologyBritish Columbia Children's HospitalVancouverBCCanada

4. AIM Medical ImagingVancouverBCCanada

5. University of Victoria Genome British Columbia Proteomics CentreVictoriaBCCanada

6. Department of Pathology and Laboratory MedicineBritish Columbia Children's HospitalVancouverBCCanada

7. Department of Cellular and Physiological SciencesUniversity of British ColumbiaVancouverBCCanada

8. Cytogenetics LaboratoryBritish Columbia Children's HospitalVancouverBCCanada

9. Centre for Translational and Applied GenomicsBritish Columbia Cancer AgencyVancouverBCCanada

10. Faculty of Health SciencesSimon Fraser UniversityBurnabyBCCanada

11. Department of PediatricsBritish Columbia Children's HospitalVancouverBCCanada

12. Canada's Michael Smith Genome Sciences CentreBritish Columbia Cancer AgencyVancouverBCCanada

13. Department of Molecular Biology and BiochemistrySimon Fraser UniversityBurnabyBCCanada

Funder

Canadian Institutes of Health Research

Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36622

Reference17 articles.

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5. Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

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1. Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G;BMC Medical Genetics;2018-09-04

2. Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation;American Journal of Medical Genetics Part A;2017-05-24

3. SomaticPIK3CAmutations in seven patients withPIK3CA-related overgrowth spectrum;American Journal of Medical Genetics Part A;2017-03-22

4. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution;JCI Insight;2016-06-16

5. Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation;American Journal of Medical Genetics Part A;2016-05-18