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A novel KAL1 mutation is associated with combined pituitary hormone deficiency
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...
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出版年: | Hum Genome Var |
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主要な著者: | , , , , |
フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
Nature Publishing Group
2014
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785554/ https://ncbi.nlm.nih.gov/pubmed/27081504 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.11 |
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