A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.

@article{Bleyl1995AGF,
  title={A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.},
  author={Steven B. Bleyl and L. Nelson and Shannon Odelberg and Herbert D. Ruttenberg and B. Otterud and M. Leppert and Kenneth Ward},
  journal={American journal of human genetics},
  year={1995},
  volume={56 2},
  pages={408-15}
}
Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart defect that, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history and has a low recurrence risk. However, we recently reported a large Utah-Idaho family in which TAPVR segregates as an autosomal dominant trait with decreased penetrance. Linkage mapping with highly polymorphic microsatellite markers localizes the disease locus in this pedigree to… CONTINUE READING
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