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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...
Zapisane w:
| Wydane w: | J Med Genet |
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| Główni autorzy: | , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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