دورية أكاديمية
Hutchinson-Gilford Progeria Syndrome
| العنوان: | Hutchinson-Gilford Progeria Syndrome |
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| المؤلفون: | Gopal G, Belavadi GB |
| المصدر: | Online Journal of Health & Allied Sciences, Vol 13, Iss 2 (2014) |
| بيانات النشر: | Light House Polyclinic Mangalore, 2014. |
| سنة النشر: | 2014 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Alopecia, Hutchinson-Gilford Progeria Syndrome, Poor weight gain, Premature aging, Short stature, Medicine |
| الوصف: | Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0972-5997 09649352 |
| العلاقة: | http://www.ojhas.org/issue50/2014-2-7.htmlTest; https://doaj.org/toc/0972-5997Test |
| الوصول الحر: | https://doaj.org/article/158f6bc997ae4ae489d09649352d7cd8Test |
| رقم الانضمام: | edsdoj.158f6bc997ae4ae489d09649352d7cd8 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 09725997 09649352 |
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