## Abstract The ฯตโsarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonusโdystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with aut
โฆ LIBER โฆ
Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome
โ Scribed by Owen, Catherine J.; Jennings, Claire E.; Imrie, Helen; Lachaux, Alain; Bridges, Nicola A.; Cheetham, Tim D.; Pearce, Simon H. S.
- Book ID
- 125838159
- Publisher
- Endocrine Society
- Year
- 2003
- Tongue
- English
- Weight
- 176 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0021-972X
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## Abstract Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most pla