A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia

Congenital hyperinsulinemic hypoglycemia is the most frequent cause of persistent and recurrent hypoglycemia in the first years of life and in many patients rare genetic variants can be identified. Recently a case of congenital hyperinsulinemic hypoglycemia and a severe neurodevelopmental syndrome d...

Descripción completa

Detalles Bibliográficos
Autores principales: De Mingo Alemany, María Carmen, Mifsud Grau, Luis, Moreno Macián, Francisca, Ferrer Lorente, Belén, León Cariñena, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7219433/
https://www.ncbi.nlm.nih.gov/pubmed/32336187
http://dx.doi.org/10.1080/19336950.2020.1761171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7219433/
https://www.ncbi.nlm.nih.gov/pubmed/32336187
http://dx.doi.org/10.1080/19336950.2020.1761171

Ejemplares similares