Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

BACKGROUND: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancyt...

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Asıl Yazarlar: Manolakos, Emmanouil, Orru, Sandro, Neroutsou, Rosita, Kefalas, Konstantinos, Louizou, Eirini, Papoulidis, Ioannis, Thomaidis, Loretta, Peitsidis, Panagiotis, Sotiriou, Sotirios, Kitsos, George, Tsoplou, Panagiota, Petersen, Michael B, Metaxotou, Aikaterini
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2009
Konular:
Case report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799424/
https://ncbi.nlm.nih.gov/pubmed/20003197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-26
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