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2q31.1 microdeletion syndrome: case report and literature review
We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deleti...
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| Publié dans: | Clin Case Rep |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley & Sons, Ltd
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4498842/ https://ncbi.nlm.nih.gov/pubmed/26185628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.260 |
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