Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | अंग्रेज़ी |
| प्रकाशित: |
2015
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| ऑनलाइन पहुंच: | https://doi.org/10.1186/s13059-015-0779-x https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-015-0779-x |
| टैग: |
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