Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q1...

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Detaylı Bibliyografya
Asıl Yazarlar: Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2908594/
https://ncbi.nlm.nih.gov/pubmed/20503325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33408
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