A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome

@article{Nagata2000ANI,
  title={A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome},
  author={Keiko Nagata and Toshiyuki Yamamoto and Hiroki Chikumi and Toshikazu Ikeda and Hiroyuki Yamamoto and Kiyoshi Hashimoto and Kazuhiko Yoneda and Eiji Nanba and Haruaki Ninomiya and Kazuyuki Ishitobi},
  journal={Journal of Human Genetics},
  year={2000},
  volume={45},
  pages={237-240}
}
AbstractWe identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X-linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 21 references

The neuroradiology of Kallmann’s syndrome: a genotypic and phenotypic analysis

  • R Quinton, VM Duke, +8 authors PMG Bouloux
  • J Clin Endocrinol Metab
  • 1996
1 Excerpt

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