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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Vydáno v:Mol Syndromol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2016
Témata:
Novel Insights from Clinical Practice
On-line přístup: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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