Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes

Introduction Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature.Research design and methods To determine the phenotypic variability caused by this rare genetic aetiol...

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Main Authors: A Shaikh, J Dhivyalakshmi, A Kulkarni, Sarah E Flanagan, Andrew T Hattersley, C Alves, A Khadilkar, V Khadilkar, J Wolf, C Oza, A Ozdemir, Z Imane, Evgenia Globa, Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Matthew N Wakeling, Kashyap Amratlal Patel, Elisa De Franco, P K Varthakavi, V Skrabic, I Unic, M Amoli, V Thiruvengadam, B Haliloglu, M Yildiz, N Elbarbary
Format: Article
Language:English
Published: BMJ Publishing Group 2024-11-01
Series:BMJ Open Diabetes Research & Care
Online Access:https://drc.bmj.com/content/12/6/e004439.full
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