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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Bibliografiska uppgifter
I publikationen:J Med Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
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Article
Länkar: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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