## Abstract Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, 2 unrelated families with Majeed syndrome have been reported. Mutations in __LPIN2__ have been found in bo
โฆ LIBER โฆ
Fraser syndrome due to homozygosity for a splice site mutation of FREM2
โ Scribed by Yousef Shafeghati; Andrea Kniepert; Ghazal Vakili; Martin Zenker
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 251 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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Hereditary progressive arthro-ophthalmopathy, or "Stickler syndrome," is an autosomal dominant osteochondrodysplasia characterized by a variety of ocular and skeletal anomalies which frequently lead to retinal detachment and precocious osteoarthritis. A variety of mutations in the COL2A1 gene have b