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Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the 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 the loss of appetite and nausea lasting for 3–4 days every 4–6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffer...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Università Cattolica del Sacro Cuore
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402545/ https://www.ncbi.nlm.nih.gov/pubmed/30858956 http://dx.doi.org/10.4084/MJHID.2019.018 |