| 1 | HTX1, ZIC3
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| The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
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| D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E.
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| Am J Med Genet A m J Med Genet A. 2013 Feb 20. doi: 10.1002/ajmg.a.35849. [Epub ahead of print]
2013
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| 2 | HTX1, ZIC3
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| Situs Inversus Totalis and a Novel ZIC3 Mutation in a Family with X-linked Heterotaxy.
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| D'Alessandro LC, Casey B, Siu VM.
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| Congenit Heart Dis ongenit Heart Dis. 2011 Dec 16. doi: 10.1111/j.1747-0803.2011.00602.x. [Epub ahead of print]
2011
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| 3 | HTX1, ZIC3
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| Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.
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| Bedard JE, Haaning AM, Ware SM.
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| PLoS One 6(8):e23755. doi: 10.1371/journal.pone.0023755. Epub 2011 Aug 17.
2011
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| 4 | ZIC3, HTX1
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| Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
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| Bedard JE, Purnell JD, Ware SM.
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| Hum Mol Genet 16(2):187-98. Epub 2006 Dec 21. 2007
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| 5 | HTX1, ZIC3
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| Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
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| Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW.
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| Am J Hum Genet 74(1):93-105. Epub 2003 Dec 16. 2004
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| 6 | HTX1, ZIC3
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| X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
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| Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P.
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| Eur J Hum Genet 8(9):704-8. 2000
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| 7 | HTX1, ZIC3
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| A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.
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| Klootwijk R, Franke B, van der Zee CE, de Boer RT, Wilms W, Hol FA, Mariman EC.
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| Hum Mol Genet 9(11):1615-22. 2000
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| 8 | HTX1
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| A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
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| Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B.
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| Am J Hum Genet 61(2):395-401. 1997
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| 9 | HTX1, ZIC1, ZIC3
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| X-linked situs abnormalities result from mutations in ZIC3.
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| Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B.
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| Nat Genet 17(3):305-8. 1997
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| 10 | ADFN, CD40LG, F9, GPC3, HPRT1, HPT1, HTX1, MCF2, THAS
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| YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers.
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| Pilia G, et al.
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| Genomics 34 : 55-62. 1996
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| 11 | HTX1
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| Heterotaxia syndrome and autosomal dominant inheritance.
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| Alonso S, et al.
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| Am J Med Genet 56 : 12-15. 1995
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| 12 | HTX1
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| Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.
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| Casey B, et al.
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| Nat Genet 5 : 403-407. 1993
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