Clinical and molecular description of two cases of neonatal diabetes secondary to mutations in PDX1

SUMMARY: Pancreatic dysgenesis (PD) is a rare congenital disease, with less than 100 cases reported in the literature. In most cases, patients are asymptomatic and the diagnosis is made incidentally. In this report, we present the case of two brothers with a history of intrauterine growth retardatio...

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Detalles Bibliográficos
Autores principales: Forero-Castro, Nicolas, Ramirez, Luis Carlos, Celis, Juan Carlos, Silva Henao, Fernando Arturo, Leal Valencia, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388677/
https://www.ncbi.nlm.nih.gov/pubmed/37417678
http://dx.doi.org/10.1530/EDM-22-0383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388677/
https://www.ncbi.nlm.nih.gov/pubmed/37417678
http://dx.doi.org/10.1530/EDM-22-0383

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