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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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| 發表在: | Clin Case Rep |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley & Sons, Ltd
2015
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| 主題: | |
| 在線閱讀: | 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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