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Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene
Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral...
محفوظ في:
| الحاوية / القاعدة: | Front Pediatr |
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| المؤلفون الرئيسيون: | , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2021
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8215120/ https://ncbi.nlm.nih.gov/pubmed/34164355 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.639687 |
| الوسوم: |
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