The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted...

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Detaylı Bibliyografya
Asıl Yazarlar: Lynch, Sally Ann, Foulds, Nicola, Thuresson, Ann-Charlotte, Collins, Amanda L, Annerén, Göran, Hedberg, Bernt-Oves, Delaney, Carol A, Iremonger, James, Murray, Caroline M, Crolla, John A, Costigan, Colm, Lam, Wayne, Fitzpatrick, David R, Regan, Regina, Ennis, Sean, Sharkey, Freddie
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2011
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083609/
https://ncbi.nlm.nih.gov/pubmed/21267005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.215
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