Novel deleterious sequence change in the NLRP12 gene in a child with autoinflammatory syndrome, joint hypermobility and cutis laxa from India.
An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
PAGEPress Publications
2019-02-01
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| Edice: | Mediterranean Journal of Hematology and Infectious Diseases |
| Témata: | |
| On-line přístup: | https://www.mjhid.org/index.php/mjhid/article/view/3723 |
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