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Localization Of Candidate Regions For A Novel Gene For Kartagener Syndrome

  July, 5 2006 7:32
your information resource in human molecular genetics
Studies in animal models have shown that laterality decisions are mediated by a cascade of genes that lead to the asymmetric expression of Nodal, LEFTA, LEFTB and PITX2 in the lateral plate mesoderm. A search for mutations in genes implicated in left–right patterning in animal models allowed genes associated with heterotaxia defects in humans to be identified. In a study published in the European Journal of Human Genetics (Vol. 14, No. 7, pp. 809-815), the authors report on research conducted on a consanguineous family of Turkish origin, composed of two unaffected parents and three children, two of whom presented Kartagener syndrome. Their data provide a basis for the identification of a novel gene implicated in Kartagener syndrome.


Dr. Miikka Vikkula, Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 74+5, bp 75.39. Brussels, B-1200, Belgium. E-mail: vikkula@bchm.ucl.ac.be

Abstract available online.

Table of Contents of current issue with links to abstracts (free for everyone) and full text (for members only) available at TOC online.

(C) European Journal of Human Genetics.

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