Cargando…
Atypical Autosomal-Dominant Inheritance of Familial Mediterranean Fever
Familial Mediterranean fever (FMF) was previously believed to be an autosomal recessive disease. We present a patient with only one pathogenic variation of the MEFV gene due to the c.2177T>C mutation. The patient had clinical features of recurrent fevers and abdominal pain, serositis, and a histo...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443824/ https://www.ncbi.nlm.nih.gov/pubmed/34549050 http://dx.doi.org/10.14309/crj.0000000000000525 |