| 1 | IDPC, PTF1A
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| Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
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| Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Lango Allen H, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium, Ellard S, Ferrer J, Hattersley AT.
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| Nat Genet 46(1):61-4. doi: 10.1038/ng.2826. Epub 2013 Nov 10.
2014
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| 2 | IDPC, PTF1A
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| A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
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| Tutak E, Satar M, Yapicioğlu H, Altintaş A, Narli N, Hergüner O, Bayram Y.
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| Genet Couns 20(2):147-52.
2009
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| 3 | PTF1A, IDPC
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| Mutations in PTF1A cause pancreatic and cerebellar agenesis.
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| Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.
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| Nat Genet 36(12):1301-5. Epub 2004 Dec. 2004
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| 4 | IDPC, PTF1A
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| Mutations in PTF1A cause pancreatic and cerebellar agenesis.
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| Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.
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| Nat Genet 36(12):1301-5. Epub 2004 Nov 14.
2004
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| 5 | IDPC, PTF1A
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| Mutations in PTF1A cause pancreatic and cerebellar agenesis.
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| Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS.
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| Nat Genet 36(12):1301-5. Epub 2004 Nov 14.
2004
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| 6 | IDPC, PTF1A
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| A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.
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| Sellick GS, Garrett C, Houlston RS.
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| Diabetes 52(10):2636-8. 2003
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| 7 | IDPC
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| Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.
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| Hoveyda N, Shield JP, Garrett C, Chong WK, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson MH.
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| J Med Genet 36(9):700-4. 1999
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