Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith– Wiedemann syndrome

BACKGROUND: Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith–Wiedemann syndrome (BWS), the underlying mechanism is not known. METHODS: We characterised the clinical features of children with both HI an...

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Publicat a:J Med Genet
Autors principals: Kalish, Jennifer M, Boodhansingh, Kara E, Bhatti, Tricia R, Ganguly, Arupa, Conlin, Laura K, Becker, Susan A, Givler, Stephanie, Mighion, Lindsey, Palladino, Andrew A, Adzick, N Scott, De León, Diva D, Stanley, Charles A, Deardorff, Matthew A
Format: Artigo
Idioma:Inglês
Publicat: 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4740975/
https://ncbi.nlm.nih.gov/pubmed/26545876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103394
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