Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one wit...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Evliyaoğlu, Olcay, Ercan, Oya, Ataloğlu, Emel, Zübarioğlu, Ümit, Özcabı, Bahar, Dağdeviren, Aydilek, Erdoğan, Hande, De Franco, Elisa, Ellard, Sian
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985387/
https://ncbi.nlm.nih.gov/pubmed/28943513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.5162
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