Selective intestinal malabsorption of vitamin B 12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by muta
β¦ LIBER β¦
Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
β Scribed by Aoi Nakano; Gilles G. Lestringant; Tamar Paperna; Reuven Bergman; Ruth Gershoni; Philippe Frossard; Moien Kanaan; Guerrino Meneguzzi; Gabriele Richard; Ellen Pfendner; Jouni Uitto; Leena Pulkkinen; Eli Sprecher
- Book ID
- 117845342
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 613 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1097-6787
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## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is