1 | AIGH, FAM20A
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| FAM20A mutations associated with enamel renal syndrome.
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| Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC.
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| J Dent Res 93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6.
2014
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2 | AIGH, FAM20A
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| Enamel-renal-gingival syndrome and FAM20A mutations.
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| Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A.
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| Am J Med Genet A 164A(1):1-9. doi: 10.1002/ajmg.a.36187. Epub 2013 Nov 20.
2014
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3 | AIGH, FAM20A
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| FAM20A mutations can cause enamel-renal syndrome (ERS).
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| Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC.
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| PLoS Genet 9(2):e1003302. doi: 10.1371/journal.pgen.1003302. Epub 2013 Feb 28.
2013
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4 | AIGH, FAM20A
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| Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
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| Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.
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| Hum Mutat 33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.
2012
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5 | AIGH, FAM20A
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| Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
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| Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.
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| Hum Mutat 33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.
2012
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6 | AIGH, FAM20A
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| Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
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| Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartą G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Jśnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.
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| Nephron Physiol 122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.
2012
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7 | AIGH, FAM20A
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| Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
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| O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Jśnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ.
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| Am J Hum Genet 88(5):616-20. Epub 2011 May 5.
2011
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