Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

[1] Edmondson AC(2015)overgrowth syndromes J. Pediatr. Genet 4 136-143

[2] Kalish JM(2015)PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Am J Med Genet 2 287-295

[3] Keppler-Noreuil KM(2017)Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway Dermatol Clin 1 51-60

[4] Rios JJ(2017)Overgrowth syndromes caused by somatic variants in the phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway J. Mol. Diagn. 4 487-497

[5] Parker VE(2009)Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation Cancer Cell 16 463-474

[6] Semple RK(2018)Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: co-occurrence of mosaicism for 2 rare disorders Clin Genet 1 187-190

[7] Lindhurst MJ(2017)Molecular diagnosis of mosaic overgrowth syndromes using a custom-designed next-generation sequencing panel J Mol Diagn 19 613-624

[8] Sapp JC(2016)PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution JCI Insight 1 e87623-412

[9] Alomari A(2015)Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? Eur J Hum Genet 23 409-940

[10] Ezaki M(2012)De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat Genet 44 934-73

[1] Edmondson AC(2015)overgrowth syndromes J. Pediatr. Genet 4 136-143

[2] Kalish JM(2015)PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Am J Med Genet 2 287-295

[3] Keppler-Noreuil KM(2017)Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway Dermatol Clin 1 51-60

[4] Rios JJ(2017)Overgrowth syndromes caused by somatic variants in the phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway J. Mol. Diagn. 4 487-497

[5] Parker VE(2009)Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation Cancer Cell 16 463-474

[6] Semple RK(2018)Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: co-occurrence of mosaicism for 2 rare disorders Clin Genet 1 187-190

[7] Lindhurst MJ(2017)Molecular diagnosis of mosaic overgrowth syndromes using a custom-designed next-generation sequencing panel J Mol Diagn 19 613-624

[8] Sapp JC(2016)PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution JCI Insight 1 e87623-412

[9] Alomari A(2015)Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? Eur J Hum Genet 23 409-940

[10] Ezaki M(2012)De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat Genet 44 934-73