Partial 1q Duplications and Associated Phenotype

Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. He...

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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Morris, Marcos L.M., Baroneza, José E., Teixeira, Patricia, Medina, Cristina T.N., Cordoba, Mara S., Versiani, Beatriz R., Roese, Liege L., Freitas, Erika L., Fonseca, Ana C.S., dos Santos, Maria C.G., Pic-Taylor, Aline, Rosenberg, Carla, Oliveira, Silviene F., Ferrari, Iris, Mazzeu, Juliana F.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2016
Matèries:
Novel Insights from Clinical Practice
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803000/
https://ncbi.nlm.nih.gov/pubmed/27022331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443599
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