| 1 | CLOVES, MCAP, PIK3CA
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| PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
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| Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.
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| Am J Med Genet A 167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.
2015
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| 2 | MCAP, PIK3CA
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| Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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| Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.
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| Am J Med Genet A 158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.
2012
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| 3 | MCAP, MPPH1, MPPH2, MPPH3
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| Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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| Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.
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| Am J Med Genet A 158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.
2012
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| 4 | MCAP, PIK3CA
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| Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
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| Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK.
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| Nat Genet 44(8):928-33. doi: 10.1038/ng.2332.
2012
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| 5 | MCAP, PIK3CA
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| Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
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| Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.
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| Am J Med Genet A 149A(5):868-76. doi: 10.1002/ajmg.a.32732.
2009
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