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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2009
Assuntos:
Copy Number Variation and Inherited Disease
Acesso em linha: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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