A novel KAL1 mutation is associated with combined pituitary hormone deficiency

@inproceedings{Takagi2014ANK,
  title={A novel KAL1 mutation is associated with combined pituitary hormone deficiency},
  author={Masaki Takagi and Satoshi Narumi and Riku Hamada and Yukihiro Hasegawa and Tomonobu Hasegawa},
  booktitle={Human Genome Variation},
  year={2014}
}
Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to luteinizing hormone, and follicle-stimulating hormone deficiencies, and improve our understanding of the phenotypic features and developmental… CONTINUE READING

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