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6q21–22 deletion syndrome with interrupted aortic arch
Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion pres...
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| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785536/ https://ncbi.nlm.nih.gov/pubmed/27081529 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.15 |
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