Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are...

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Autors principals: Goobie, S., Knijnenburg, J., FitzPatrick, D., Sharkey, F.H., Lionel, A.C., Marshall, C.R., Azam, T., Shago, M., Chong, K., Mendoza-Londono, R., den Hollander, N.S., Ruivenkamp, C., Maher, E., Tanke, H.J., Szuhai, K., Wintle, R.F., Scherer, S.W.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2009
Matèries:
Copy Number Variation and Inherited Disease
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2920184/
https://ncbi.nlm.nih.gov/pubmed/19287140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000184693
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