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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Dettagli Bibliografici
Pubblicato in:Mol Syndromol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2016
Soggetti:
Novel Insights from Clinical Practice
Accesso online: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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