A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%‐50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in...

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Detalles Bibliográficos
Autores principales: Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons A/S 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434855/
https://www.ncbi.nlm.nih.gov/pubmed/28318089
http://dx.doi.org/10.1111/pedi.12512

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