A novel KAL1 mutation is associated with combined pituitary hormone deficiency

Masaki Takagi, Satoshi Narumi, Riku Hamada, Yukihiro Hasegawa, Tomonobu Hasegawa

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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 course associated with KAL1 mutations.

本文言語English
論文番号14011
ジャーナルHuman Genome Variation
1
DOI
出版ステータスPublished - 2014

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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