Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins
β Scribed by Toni Hospach; Pia Lohse; Helmut Heilbronner; Guenther E. Dannecker; Peter Lohse
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 111 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0004-3591
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## Abstract Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this lifeβthreatening condition varies widely among these disorders, being higher for patients affected by familial Mediterranean fe
## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ lowβpenetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).