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SAT-681 Transient Neonatal Diabetes Mellitus Triggered by EIF2AK3 and PTF1A Mutation

Background: Neonatal diabetes mellitus (NDM) occurs within the first 6 months of life. Advances in molecular genetics have identified various causatives genes. Mutations in EIF2AK3 causes Wolcott-Rallison syndrome characterized by NDM, multiple epiphyseal dysphasia and growth retardation. PTF1A is a...

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Pubblicato in:J Endocr Soc
Autori principali: Ahn, Moon Bae, Lee, Yoon Ji, Lee, Na Yeong, Kim, Seul Ki, Kim, Shin Hee, Cho, Won Kyoung, Cho, Kyoung Soon, Jung, Min Ho, Suh, Byung Kyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207911/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1603
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