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non-syndromic heterotaxia

Wednesday 25 July 2007

Genetic causes of non-syndromal heterotaxia

- ZIC3 mutations at Xq26: heterotaxias
- ACVR2B mutations at 3p22: situs ambiguus
- LEFTYA mutations at 1p42: left isomerism
- CFC1 mutations at 2q21: heterotaxias
- CRELD1 mutations at 3p25: atrioventricular septal defect and dextrocardia
- NKX2E (NKX2.5) at 5q34: atrial septal defect, situs ambiguus, polysplenia
- NODAL/FOXA2 compound heterozygous mutations: situs ambiguus
- CFC1/NODAL compound heterozygous mutations: situs ambiguus

See also

- heterotaxias