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Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome
Neuro-ichthyotic syndromes are a group of rare genetic diseases mainly associated with perturbations in lipid metabolism, intracellular vesicle trafficking, or glycoprotein synthesis. Here, we report a patient with a neuro-ichthyotic syndrome associated with deleterious mutations in the ALDH1L2 (ald...
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| 出版年: | NPJ Genom Med |
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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 UK
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6650503/ https://ncbi.nlm.nih.gov/pubmed/31341639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0092-9 |
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