ArticleJournal of diabetes investigation2021
Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.
Article in Journal of diabetes investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.JCEM case reports · 2025Article
- PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.Journal of diabetes investigation · 2025Article
- Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.Therapeutic advances in endocrinology and metabolism · 2025Article
- Machine Learning in Identifying Marker Genes for Congenital Heart Diseases of Different Cardiac Cell Types.Life (Basel, Switzerland) · 2024Article
- Structural and Dynamic Analyses of Pathogenic Variants inLife (Basel, Switzerland) · 2024Article
- Unveiling the molecular landscape of PCOS: identifying hub genes and causal relationships through bioinformatics and Mendelian randomization.Frontiers in endocrinology · 2024Article
- Atypical diabetes arising from SHORT syndrome: a case report.Frontiers in endocrinology · 2024Article
- Analysis of Methylome, Transcriptome, and Lipid Metabolites to Understand the Molecular Abnormalities in Polycystic Ovary Syndrome.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Article
- SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.Current diabetes reports · 2022Review
- Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.Journal of diabetes investigation · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 mutation (c.2008delT) and complicated with severe insulin resistance. Although no treatment guidelines are available to relieve insulin resistance in SHORT syndrome, our treatment plans, including lifestyle intervention combined with metformin and pioglitazone, were carried out for this patient. After the intervention, insulin resistance and hyperinsulinemia in this patient were significantly decreased during a 6-month follow up, which showed the effect of our therapeutic strategies.
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