تقرير
Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.
| العنوان: | Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report. |
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| المؤلفون: | Hummadi A; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia., Nahari AA; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.; King Fahd Diabetes and Endocrinology Center King Fahd hospital Jazan Saudi Arabia., Alhagawy AJ; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.; Jazan Health Affairs Ministry of Health Jazan Saudi Arabia., Zakri I; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia., Abutaleb R; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.; Jazan Health Affairs Ministry of Health Jazan Saudi Arabia., Yafei S; Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.; Faculty of Medicine and Health Sciences Internal Medicine Department Taiz University Taiz Yemen. |
| المصدر: | Clinical case reports [Clin Case Rep] 2022 Apr 20; Vol. 10 (4), pp. e05720. Date of Electronic Publication: 2022 Apr 20 (Print Publication: 2022). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Chichester, UK : John Wiley & Sons |
| مستخلص: | Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1-acylglycerol-3-phosphate O-acyltransferase β (AGPAT2) genetic variant. Competing Interests: The authors declare that they have no competing interests. (© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.) |
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| فهرسة مساهمة: | Keywords: AGPAT2; Berardinelli–Seip congenital lipodystrophy; lipodystrophy |
| تواريخ الأحداث: | Date Created: 20220427 Latest Revision: 20220716 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC9020436 |
| DOI: | 10.1002/ccr3.5720 |
| PMID: | 35474974 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2050-0904 |
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| DOI: | 10.1002/ccr3.5720 |