Thanatophore Dysplasie 1
Die Thanatophore Dysplasie 1 ist eine autosomal dominante Erkrankung, welche durch Mutationen im FGFR3-Gen ausgelöst wird. Sie ist eine lethale Form des Zwegwuchses mit stark verkürzten Extremitäten. Typisch für den Typ 1 ist der gebogene Femur. Dagegen ist der Kleeblattschädel nicht immer nachweisbar.
Gliederung
Referenzen:
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| 2. |
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| 48. |
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| 49. |
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| 50. |
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| 51. |
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