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A de novo truncating mutation in ASXL1 associated with segmental overgrowth
Mutations in genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype–phenotype correlations are available for some of the rarest genetic disorders that affect chromatin regulation. We hereby describe...
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| 出版年: | J Genet |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7116628/ https://ncbi.nlm.nih.gov/pubmed/31819025 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12041-019-1155-5 |
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