Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome.  A range of clinical features can result from these deletions with the most common being facial dysmorphisms and neurological im...

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Publicado no:Wellcome Open Res
Main Authors: Banerjee, Indraneel, Senniappan, Senthil, Laver, Thomas W., Caswell, Richard, Zenker, Martin, Mohnike, Klaus, Cheetham, Tim, Wakeling, Matthew N., Ismail, Dunia, Lennerz, Belinda, Splitt, Miranda, Berberoğlu, Merih, Empting, Susann, Wabitsch, Martin, Pötzsch, Simone, Shah, Pratik, Siklar, Zeynep, Verge, Charles F., Weedon, Michael N., Ellard, Sian, Hussain, Khalid, Flanagan, Sarah E.
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2020
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7422856/
https://ncbi.nlm.nih.gov/pubmed/32832699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.15465.2
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