| 1 | CFC1, HTX2
|
| Duplication and deletion of CFC1 associated with heterotaxy syndrome.
|
| Cao R, Long F, Wang L, Xu Y, Guo Y, Li F, Chen S, Sun K, Xu R.
|
| DNA Cell Biol 34(2):101-6. doi: 10.1089/dna.2014.2616.
2015
|
| 2 | HTX11, HTX2, UVRAG
|
| Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation.
|
| Iida A, Emi M, Matsuoka R, Hiratsuka E, Okui K, Ohashi H, Inazawa J, Fukushima Y, Imai T, Nakamura Y.
|
| Hum Genet 106(3):277-87. 2000
|
| 3 | CFC1, HTX2
|
| Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
|
| Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Towbin J, Bowers P, Marino B, Schier AF, Shen MM, Muenke M, Casey B.
|
| Nat Genet 26(3):365-9. 2000
|
| 4 | GJA1, HTX2
|
| Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
|
| Penman Splitt M, Tsai MY, Burn J, Goodship JA.
|
| Heart 77(4):369-70. 1997
|
| 5 | GJA1, HTX2
|
| Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy.
|
| Gebbia M, et al.
|
| Circulation 94 : 1909-1912. 1996
|
| 6 | HTX2
|
| De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia.
|
| Kato R, et al.
|
| Am J Med Genet 66 : 184-186. 1996
|
| 7 | HTX2, GJA1
|
| Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality.
|
| Britz-Cunningham SH, et al.
|
| N Engl J Med 332 : 1323-1329. 1995
|