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Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia
We present a patient with a 17.31 MB interstitial deletion of 6q16.3‐6q22.31, who demonstrates a unique constellation of 6q‐ features. Among 6q‐ patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphra...
Guardat en:
| Publicat a: | Clin Case Rep |
|---|---|
| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5457987/ https://ncbi.nlm.nih.gov/pubmed/28588837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.916 |
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