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X-linked heterotaxy

Genetics: - mutations in the ZIC3 gene (>75%) Laboratory: - X-linked heterotaxy in blood/tissue

General

X-linked disease heterotaxia; heterotaxy; situs ambiguus

References

  1. Paulussen AD, Steyls, Vanoevelen J et al Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. European Journal of Human Genetics 24, 1783-1791 (December 2016) PMID: 27406248