| 1 | CIPO2, FLNA
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| Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
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| van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O'Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM.
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| Genet Med enet Med. 2012 Oct 4. doi: 10.1038/gim.2012.123. [Epub ahead of print]
2012
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| 2 | FLNA, CIPO2
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| Filamin a is mutated in x-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
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| Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A.
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| Am J Hum Genet 80(4):751-8. Epub 2007 Feb 26. 2007
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| 3 | CIPO2
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| Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
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| FitzPatrick DR, Strain L, Thomas AE, Barr DG, Todd A, Smith NM, Scobie WG.
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| J Med Genet 34(8):666-9. 1997
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| 4 | CIPO2
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| The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.
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| Auricchio A, et al.
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| Am J Hum Genet 58 : 743-748. 1996
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