A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozy...

Descripción completa

Detalles Bibliográficos
Autores principales: Esquiaveto-Aun, Adriana Mangue, De Mello, Maricilda Palandi, Paulino, Maria Fernanda Vanti Macedo, Minicucci, Walter José, Guerra-Júnior, Gil, De Lemos-Marini, Sofia Helena Valente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652399/
https://www.ncbi.nlm.nih.gov/pubmed/26587058
http://dx.doi.org/10.1186/s13098-015-0101-9

Ejemplares similares

Ejemplares similares