Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome [version 2; peer review: 2 approved, 1 approved with reservations]

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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Main Authors: Indraneel Banerjee, Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N. Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Pratik Shah, Zeynep Siklar, Charles F. Verge, Michael N. Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Formato: Artigo
Idioma:Inglês
Publicado em: Wellcome 2020-08-01
Colecção:Wellcome Open Research
Acesso em linha:https://wellcomeopenresearch.org/articles/4-149/v2
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