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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...

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Detalles Bibliográficos
Autores principales: İkbal Atli, E, Gürkan, H, Vatansever, Ü, Ulusal, S, Tozkir, H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
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