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A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation carriers. Carriers of this balanced translocat...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
De Gruyter
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026272/ https://www.ncbi.nlm.nih.gov/pubmed/27785401 http://dx.doi.org/10.1515/bjmg-2015-0089 |