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A New Case of an Extremely Rare 3p21.31 Interstitial Deletion
Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a de novo deletion of 3p21.31, encompassing 29 OMIM genes. Despite the wide use of microarrays, no simi...
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| Publicat a: | Mol Syndromol |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906427/ https://ncbi.nlm.nih.gov/pubmed/27385966 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445227 |
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