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Evidence for inheritance in patients with VACTERL association

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Abstract

VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.

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Acknowledgments

The authors would like to express gratitude to the participating patients and families, and would also like to thank Dr. Maximilian Muenke for his support and mentorship. This research was supported by the Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health and Human Services, USA.

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Authors and Affiliations

  1. Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD, 20892, USA

    Benjamin D. Solomon, Daniel E. Pineda-Alvarez & Manu S. Raam

  2. National Institutes of Health Research Scholars Program, Howard Hughes Medical Institute, Bethesda, MD, USA

    Manu S. Raam

  3. Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA

    Derek A. T. Cummings

Authors
  1. Benjamin D. Solomon
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  2. Daniel E. Pineda-Alvarez
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  3. Manu S. Raam
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  4. Derek A. T. Cummings
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Corresponding author

Correspondence to Benjamin D. Solomon.

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Solomon, B.D., Pineda-Alvarez, D.E., Raam, M.S. et al. Evidence for inheritance in patients with VACTERL association. Hum Genet 127, 731–733 (2010). https://doi.org/10.1007/s00439-010-0814-7

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  • DOI: https://doi.org/10.1007/s00439-010-0814-7

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