| 1 | FLNA, PVNH4
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| Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
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| Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C.
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| Blood 118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29.
2011
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| 2 | FLNA, PVNH4
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| Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
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| Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM.
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| J Med Genet 43(3):232-7. Epub 2005 Jul 1.
2006
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| 3 | PVNH4, FLNA
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| Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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| Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
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| Neurology 64(2):254-62. 2005
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| 4 | PVNH4, FLNA
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| Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
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| Gomez-Garre P, Serratosa JM.
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| Hum Genet 118(3-4):545. No abstract available. 2005
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| 5 | PVNH4
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| Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias.
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| Cupo LN, Pyeritz RE, Olson JL, McPhee SJ, Hutchins GM, McKusick VA.
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| Am J Med 71(6):1051-8. 1981
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