دورية أكاديمية
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia.
| العنوان: | Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. |
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| المؤلفون: | Flanagan, S E, Kapoor, R R, Smith, V V, Hussain, K, Ellard, Sian |
| المصدر: | Front Endocrinol (Lausanne) ; ISSN:1664-2392 ; Volume:2 |
| بيانات النشر: | PubMed Central |
| سنة النشر: | 2011 |
| المجموعة: | PubMed Central (PMC) |
| مصطلحات موضوعية: | Beckwith–Wiedemann syndrome, hyperinsulinemic hypoglycemia, uniparental disomy |
| الوصف: | Loss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP) channel are identified in approximately 80% of patients with diazoxide unresponsive hyperinsulinemic hypoglycemia (HH). For a small number of patients HH can occur as part of a multisystem disease such as Beckwith-Wiedemann syndrome (BWS). In approximately 20% of patients, BWS results from chromosome 11 paternal uniparental disomy (UPD), which causes dysregulation of imprinted growth regulation genes at 11p15.5. There is a considerable range in the clinical features and phenotypic severity associated with BWS which is likely to be due to somatic mosaicism. The cause of HH in these patients is not known. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://doi.org/10.3389/fendo.2011.00066Test; https://pubmed.ncbi.nlm.nih.gov/22654821Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356130Test/ |
| DOI: | 10.3389/fendo.2011.00066 |
| الإتاحة: | https://doi.org/10.3389/fendo.2011.00066Test https://pubmed.ncbi.nlm.nih.gov/22654821Test https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356130Test/ |
| رقم الانضمام: | edsbas.4E5283C6 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fendo.2011.00066 |
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