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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
BACKGROUND: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype gap through the discovery of new genes and va...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5264232/ https://ncbi.nlm.nih.gov/pubmed/27418539 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103942 |
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