Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation
Author:
Affiliation:
1. Department of Paediatric Diabetes Regional Hospital Mullingar County Westmeath Ireland
2. Women's and Children's Health, School of Medicine University College Dublin Dublin 4 Ireland
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62876
Reference11 articles.
1. Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
2. ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis
3. PPAR gamma gene – A review
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5. Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome;Molecular Genetics & Genomic Medicine;2023-07-26
2. Pediatric Obesity: Complications and Current Day Management;Life;2023-07-20
3. Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature;Clinical Dysmorphology;2023-05-12
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