Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous de...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Galvão Gomes, Alexandra, Paiva Grangeiro, Carlos H., Silva, Luiz R., Oliveira-Gennaro, Flávia G., Pereira, Ciro S., Joaquim, Tatiana M., Panepucci, Rodrigo A., Squire, Jeremy A., Martelli, Lucia
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2017
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5260599/
https://ncbi.nlm.nih.gov/pubmed/28232783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452681
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