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Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum
Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X. Identifying this varia...
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6452501/ https://ncbi.nlm.nih.gov/pubmed/30997057 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2051 |
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