Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

@article{Schmidt2001BirtHoggDubSA,
  title={Birt-Hogg-Dub{\'e} syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.},
  author={Laura S. Schmidt and Michelle B Warren and Michael L. Nickerson and Gregor Weirich and Vera Matrosova and Jorge R. Toro and Maria L. Chanco Turner and Paul R Duray and Marta Merino and Stephen Hewitt and Christian P Pavlovich and Gladys Glenn and Cheryl Rochman Greenberg and W. Marston Linehan and Berton Zbar},
  journal={American journal of human genetics},
  year={2001},
  volume={69 4},
  pages={876-82}
}
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families with cutaneous lesions and associated phenotypic features of the BHD syndrome. We performed a genomewide scan in one large kindred with BHD and, by linkage analysis, localized the gene locus to the pericentromeric region of chromosome 17p, with… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS
108 Citations
31 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 108 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 31 references

69:876–882, 2001 of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

  • Am. J. Hum. Genet
  • Nat Genet
  • 2001

teractions of the COP 9 signalosome with the E 3 ubiquitin ligase SCFTIR 1 in mediating auxin response

  • C Schwechheimer, G Serino, +6 authors Deng X-W
  • Science
  • 2001
1 Excerpt

Similar Papers

Loading similar papers…