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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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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: Devaraja, Janani, Elder, Charlotte, Scott, Adrian
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7077548/
https://ncbi.nlm.nih.gov/pubmed/32101525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-19-0125
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