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Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708d...
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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 UK
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7000808/ https://ncbi.nlm.nih.gov/pubmed/32047638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0090-6 |
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