Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.

@article{Slavotinek2009SequenceVI,
  title={Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.},
  author={A Slavotinek and Ali Moshrefi and N Lopez Jiminez and Ruan Chao and Ari L. Mendell and GM Shaw and LA Pennacchio and M. Bates},
  journal={Clinical genetics},
  year={2009},
  volume={75 5},
  pages={
          429-39
        }
}
Congenital diaphragmatic hernia (CDH) is a common birth defect for which few causative genes have been identified. Several candidate regions containing genes necessary for normal diaphragm development have been identified, including a 4-5 Mb deleted region at chromosome 1q41-1q42 from which the causative gene(s) has/have not been cloned. We selected the HLX gene from this interval as a candidate gene for CDH, as the Hlx homozygous null mouse has been reported to have diaphragmatic defects and… CONTINUE READING

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VIEW 7 EXCERPTS
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  • Proceedings of the National Academy of Sciences of the United States of America
  • 2018
VIEW 2 EXCERPTS
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VIEW 2 EXCERPTS
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References

Publications referenced by this paper.
SHOWING 1-10 OF 36 REFERENCES

Mesoderm-specific expression of the divergent homeobox gene Hlx during murine embryogenesis.

  • Developmental dynamics : an official publication of the American Association of Anatomists
  • 1996
VIEW 8 EXCERPTS
HIGHLY INFLUENTIAL

Genetic factors in congenital diaphragmatic hernia.

  • American journal of human genetics
  • 2007
VIEW 1 EXCERPT