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Das verlorene Gen by Shahin Asadi

Das verlorene Gen

by Shahin Asadi
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Book cover type: Paperback
  • ISBN13: 9786202498876
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Verlag Unser Wissen
  • Publisher Imprint: Verlag Unser Wissen
  • Publication Date:
  • Pages: 104
  • Original Price: GBP 43.41
  • Language: German
  • Edition: N/A
  • Item Weight: 150 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Das Raine-Syndrom, eine schwere Skelettdysplasie, f�hrt in der Regel zum Tod von Patienten im Neugeborenenalter. Es gibt Berichte, dass Patienten mit einer milderen Form der Erkrankung l�nger leben und das Kindesalter erreichen. Radiologische Untersuchungen zeigen eine Zunahme der Knochendichte, generalisierte Sklerose und Osteoarthritis. Das Raine-Syndrom ist eine sehr seltene, letale, erblich bedingte Skelettdysplasie. Es gibt nur wenige Berichte �ber mildere Ph�notypen, bei denen Patienten bis ins sp�te Kindesalter �berlebten. Radiologische Untersuchungen zeigen eine erh�hte Knochendichte und Osteosklerose. Die erh�hte Knochendichte im Kopf- und Gesichtsbereich verursacht charakteristische dysmorphe Merkmale, darunter eine ausgepr�gte und schmale Stirn, Proptosis, eine kleine hypoplastische Nase mit eingefallener Nasenwurzel, eine Hypoplasie des Mittelgesichts, einen dreieckigen Mund, eine Koanalatresie und intrakranielle Hirnverkalkungen. Die Osteosklerose ist so stark ausgepr�gt, dass sie mit Osteopetrose verwechselt werden kann. Das Raine-Syndrom ist eine autosomal-rezessive Erbkrankheit. Ursache ist eine homozygote oder compound-heterozygote Mutation im FAM20C-Gen. Das Gen kodiert f�r eine Phosphorylase-Kinase, die f�r die Biomineralisation des Skeletts verantwortlich ist.

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