Die Chondrodysplasie vom Typ Grebe ist eine autosomal rezessive Erkrankung die durch Mutationen im GDF5-Gen hervorgerufen wird. Zu den Merkmalen dieser Erkrankung zählen eine extremer Minderwuch mit Hypomelie sowie viele weitere schere Störungen des Knochen- und Gelenksystems.
Chondrodysplasie | ||||
Akromesomele Dysplasie Typ Demirhan | ||||
Akromesomele Dysplasie Typ Grebe | ||||
GDF5 | ||||
Akromesomele Dysplasie Typ Hunter-Thompson | ||||
GDF5 | ||||
1. |
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2. |
Thomas JT et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. |
3. |
None (1986) Heterozygote expression in Grebe chondrodysplasia. |
4. |
Teebi AS et al. (1986) Severe short-limb dwarfism resembling Grebe chondrodysplasia. |
5. |
None (1968) A rare genetic syndrome. |
6. |
Kumar D et al. (1984) Grebe chondrodysplasia and brachydactyly in a family. |
7. |
Costa T et al. (1998) Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers. |
8. |
Lin AE et al. (2001) Grebe syndrome in Vietnamese sisters: not Agent Orange. |
9. |
None (1964) A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES. |
10. |
OMIM.ORG article Omim 200700 |
11. |
Orphanet article Orphanet ID 2098 |
12. |
Wikipedia Artikel Wikipedia DE (Akromesomele_Dysplasie_Typ_Grebe) |