Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes

SUMMARY: This case report describes a family pedigree of a mother and her children with an E227K mutation in the KCNJ11 gene. People with this particular gene mutation typically present with transient neonatal diabetes; with more than half the cohort relapsing into permanent diabetes in adolescence...

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Detalles Bibliográficos
Autores principales: Devaraja, Janani, Elder, Charlotte, Scott, Adrian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077548/
https://www.ncbi.nlm.nih.gov/pubmed/32101525
http://dx.doi.org/10.1530/EDM-19-0125

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077548/
https://www.ncbi.nlm.nih.gov/pubmed/32101525
http://dx.doi.org/10.1530/EDM-19-0125

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