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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados