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Constitutional trisomy 8 mosaicism syndrome: case report and review

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with cla...

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書目詳細資料
發表在:J Pediatr Genet
Main Authors: Udayakumar, Achandira M., Al-Kindy, Adila
格式: Artigo
語言:Inglês
出版: Georg Thieme Verlag KG 2013
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020980/
https://ncbi.nlm.nih.gov/pubmed/27625859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13069
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