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A Novel Missense Variant in the GLI3 Zinc Finger Domain in a Family with Digital Anomalies
Mutations in GLI3, which encodes a transcription factor of the Hedgehog signaling pathway, cause several developmental anomalies linked to inappropriate tissue patterning. Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p.(Cys609Tyr)) initially identif...
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| Vydáno v: | Am J Med Genet A |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5685880/ https://ncbi.nlm.nih.gov/pubmed/28884880 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38415 |
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