1
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Genetics of human left-right axis malformations.

      Seminars in Cell & Developmental Biology
      Body Patterning, genetics, Congenital Abnormalities, Forecasting, Humans, Molecular Biology, Phenotype, Syndrome, Terminology as Topic

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Like all vertebrates, humans establish anatomic left-right asymmetry during embryogenesis. Variation from this normal arrangement (situs solitus) results in heterotaxy, expressed either as randomization (situs ambiguus) or complete reversal (situs inversus) of normal organ position. Familial heterotaxy occurs with autosomal dominant, recessive, and X-linked inheritance. All possible situs variants--solitus, ambiguus, inversus--can appear among some heterotaxy families. Positional cloning has led to the identification of a gene on the X chromosome responsible for some cases of human heterotaxy. In addition to their medical relevance, human studies provide a unique contribution to our understanding of left-right axis development among all vertebrates.

          Related collections

          Author and article information

          Journal
          9572118
          10.1006/scdb.1997.0187

          Chemistry
          Body Patterning,genetics,Congenital Abnormalities,Forecasting,Humans,Molecular Biology,Phenotype,Syndrome,Terminology as Topic

          Comments

          Comment on this article