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Syed A, Sherwani R, Azam Q, Haque F, Akhter K. Congenital macrodactyly: a clinical study. Acta Orthop Belg. 2005; 71:399–404.SyedASherwaniRAzamQHaqueFAkhterKCongenital macrodactyly: a clinical study200571399404Search in Google Scholar
da Costa JN, Matias J. Segmental hemihyperplasia-related macrodactyly with congenital renal agenesis: a hand surgeon’s point of view. Arch Plast Surg. 2015; 42:655–8.daCosta JNMatiasJSegmental hemihyperplasia-related macrodactyly with congenital renal agenesis: a hand surgeon’s point of view201542655810.5999/aps.2015.42.5.655457918726430647Search in Google Scholar
Iyengar KP, Matar HE, Suraliwala K. Thumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence? BMJ Case Rep. 2017. doi:10.1136/bcr-2016-218043IyengarKPMatarHESuraliwalaKThumb and index finger macrodactyly with first carpometacarpal and scaphotrapezotrapezoidal joints fusion: inevitable consequence?201710.1136/bcr-2016-218043525553728062434Open DOISearch in Google Scholar
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015; 167A:287–95.Keppler-NoreuilKMRiosJJParkerVESempleRKLindhurstMJSappJCet alPIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation2015167A287–9510.1002/ajmg.a.36836448063325557259Search in Google Scholar
Kotwal PP, Farooque M. Macrodactyly. J Bone Joint Surg Br. 1998; 80:651–3.KotwalPPFarooqueMMacrodactyly199880651310.1302/0301-620X.80B4.0800651Search in Google Scholar
Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet. 2013; 22:444–51.RiosJJPariaNBurnsDKIsraelBACorneliaRWiseCAEzakiMSomatic gain-of-function mutations in PIK3CA in patients with macrodactyly2013224445110.1093/hmg/dds440354286223100325Search in Google Scholar
Tripolszki K, Knox R, Parker V, Semple R, Farkas K, Sulak A, et al. Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. Eur J Med Genet. 2016; 59:223–6.TripolszkiKKnoxRParkerVSempleRFarkasKSulakAet alSomatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly201659223610.1016/j.ejmg.2016.02.00226851524Search in Google Scholar
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014; 164A:1713–33.Keppler-NoreuilKMSappJCLindhurstMJParkerVEBlumhorstCDarlingTet alClinical delineation and natural history of the PIK3CA-related overgrowth spectrum2014164A1713–3310.1002/ajmg.a.36552432069324782230Search in Google Scholar
Wu J, Tian W, Tian G, Sumner K, Hutchinson DT, Ji Y. An investigation of PIK3CA mutations in isolated macrodactyly. J Hand Surg Eur. 2018; 43:756–60.WuJTianWTianGSumnerKHutchinsonDTJiYAn investigation of PIK3CA mutations in isolated macrodactyly2018437566010.1177/175319341877036629661094Search in Google Scholar
Kang S, Bader AG, Vogt PK. Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. Proc Natl Acad Sci U S A. 2005; 102:802–7.KangSBaderAGVogtPKPhosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic2005102802710.1073/pnas.040886410254558015647370Search in Google Scholar
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012; 44:928–33.LindhurstMJParkerVEPayneFSappJCRudgeSHarrisJet alMosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA2012449283310.1038/ng.2332346140822729222Search in Google Scholar
Campbell IG, Russell SE, Choong DY, Montgomery KG, Ciavarella ML, Hooi CS, et al. Mutation of the PIK3CA gene in ovarian and breast cancer. Cancer Res. 2004; 64:7678–81.CampbellIGRussellSEChoongDYMontgomeryKGCiavarellaMLHooiCSet alMutation of the PIK3CA gene in ovarian and breast cancer20046476788110.1158/0008-5472.CAN-04-293315520168Search in Google Scholar
Iacobas I, Burrows PE, Adams DM, Sutton VR, Hollier LH, Chintagumpala MM. Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer. 2011; 57:321–3.IacobasIBurrowsPEAdamsDMSuttonVRHollierLHChintagumpalaMMOral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation201157321310.1002/pbc.2309821360661Search in Google Scholar
Mukohara T. PI3K mutations in breast cancer: prognostic and therapeutic implications. Breast Cancer (Dove Med Press). 2015; 7:111–23.MukoharaTPI3K mutations in breast cancer: prognostic and therapeutic implications201571112310.2147/BCTT.S60696444042426028978Search in Google Scholar
di Blasio L, Puliafito A, Gagliardi PA, Comunanza V, Somale D, Chiaverina G, et al. PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations. Cell Death Dis. 2018; 9:45.diBlasio LPuliafitoAGagliardiPAComunanzaVSomaleDChiaverinaGet alPI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations201894510.1038/s41419-017-0064-x583344829352118Search in Google Scholar