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A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management
The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. Th...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028415/ https://www.ncbi.nlm.nih.gov/pubmed/29988690 http://dx.doi.org/10.1002/ccr3.1574 |