Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum-Reference-Cited by-同舟云学术

Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum

Published:2014-04-29 Issue:7 Volume:164 Page:1713-1733
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Keppler‐Noreuil Kim M.¹,Sapp Julie C.¹,Lindhurst Marjorie J.¹,Parker Victoria E.R.²,Blumhorst Cathy¹,Darling Thomas³,Tosi Laura L.⁴,Huson Susan M.⁵,Whitehouse Richard W.⁶,Jakkula Eveliina⁷,Grant Ian⁸,Balasubramanian Meena⁹,Chandler Kate E.⁵,Fraser Jamie L.¹,Gucev Zoran¹⁰,Crow Yanick J.⁵,Brennan Leslie Manace¹¹,Clark Robin¹²,Sellars Elizabeth A.¹³,Pena Loren DM¹⁴,Krishnamurty Vidya¹⁵,Shuen Andrew¹⁶,Braverman Nancy¹⁷,Cunningham Michael L.¹⁸,Sutton V. Reid¹⁹,Tasic Velibor²⁰,Graham John M.²¹,Geer Joseph²²,Henderson Alex²³,Semple Robert K.²,Biesecker Leslie G.¹

Affiliation:

1. National Human Genome Research InstituteNational Institutes of HealthBethesdaMaryland

2. The University of Cambridge Metabolic Research LaboratoriesInstitute of Metabolic ScienceCambridgeUK

3. Department of DermatologyUniformed Services University of the Health SciencesBethesdaMaryland

4. Division of Orthopaedic Surgery and Sports MedicineChildren's National Medical CenterWashingtonDistrict of Columbia

5. Manchester Centre for Genomic MedicineCentral Manchester University Hospitals NHS Foundation TrustInstitute of Human DevelopmentFaculty of Medical and Human SciencesUniversity of ManchesterManchester Academic Health Sciences Centre (MAHSC)ManchesterUK

6. Department of RadiologyCentral Manchester University Hospitals NHS Foundation Trust Manchester Royal Infirmary Oxford Road ManchesterManchesterUK

7. Department of Clinical GeneticsHelsinki University Central HospitalHelsinkiFinland

8. Department of Plastic SurgeryCambridge University Hospitals NHS TrustCambridgeUK

9. Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation TrustSheffieldUK

10. Department of Endocrinology and GeneticsMedical Faculty SkopjeSkopjeMacedonia

11. Medical GeneticsKaiser Permanente OaklandUniversity of CaliforniaSan FranciscoCalifornia

12. Division of Medical GeneticsDepartment of PediatricsLoma Linda University Medical CenterLoma LindaCalifornia

13. Section of Genetics and MetabolismArkansas Children's HospitalLittle RockArkansas

14. Division of GeneticsDepartment of PediatricsDuke University Medical CenterDurhamNorth Carolina

15. Pediatrics and Genetics ClinicsAlpharettaGeorgia

16. Department of Medical GeneticsMcGill University Health CentreMontrealQuebecCanada

17. Department of Human Genetics and PediatricsMcGill UniversityMontreal Children's Hospital Research InstituteMontrealCanada

18. Division of Craniofacial MedicineUniversity of Washington School of MedicineSeattleWashington

19. Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas

20. University Children's HospitalMedical SchoolSkopjeMacedonia

21. Clinical Genetics and DysmorphologyDepartment of PediatricsHarbor‐UCLA Medical CenterLos AngelesCalifornia

22. Greenwood Genetics CenterGreenwoodSouth Carolina

23. Northern Genetics ServiceNewcastle Upon Tyne HospitalsNewcastle Upon TyneUK

Funder

Intramural Research Program of the National Human Genome Research Institute

Wellcome Trust (Senior Research Fellowship in Clinical Science)

Clinical Research Training Fellowship

UK National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre

UK Medical Research Council Centre for Obesity and Related Metabolic Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36552

Reference48 articles.

1. Cooperation betweenPik3caand p53 Mutations in Mouse Mammary Tumor Formation

2. Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

3. CLOVES syndrome with thoracic and central phlebectasia: Increased risk of pulmonary embolism

4. Clinical differentiation between proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia

5. The challenges of Proteus syndrome: diagnosis and management

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