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Engelmann syndrome
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Geliefert zwischen Fr., 20.02.2026 und Mo., 23.02.2026
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High Quality Content by WIKIPEDIA articles! Engelmann syndrome is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily thickened bones, especially along the shafts of the long bones. The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited, however some patients have no previous history of Engelmanns Syndrome within their family. The disease is slowly progressive and, while there is no cure, there is treatment. The most common mutation causing Engelmann syndrome is in the gene encoding for the TGF-B2 receptor.
Weitere Informationen
- Allgemeine Informationen
- GTIN 09786130852795
- Editor Frederic P. Miller, Agnes F. Vandome, John McBrewster
- EAN 9786130852795
- Format Fachbuch
- Titel Engelmann syndrome
- Herausgeber Alphascript Publishing
- Anzahl Seiten 84
- Genre Biologie
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