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EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model
BACKGROUND: Congenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity. METHODS: To identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dys...
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| Vydáno v: | Birth Defects Res A Clin Mol Teratol |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4487781/ https://ncbi.nlm.nih.gov/pubmed/26118977 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.23397 |
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