Abstract
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.
| Original language | English |
|---|---|
| Article number | 14011 |
| Journal | Human Genome Variation |
| Volume | 1 |
| DOIs | |
| Publication status | Published - 2014 |
ASJC Scopus subject areas
- Biochemistry
- Genetics
- Molecular Biology
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Cite this
Takagi, M., Narumi, S., Hamada, R., Hasegawa, Y., & Hasegawa, T. (2014). A novel KAL1 mutation is associated with combined pituitary hormone deficiency. Human Genome Variation, 1, [14011]. https://doi.org/10.1038/hgv.2014.11