The Grebe type chondrodysplasia is an autosomal recessive disorder caused by mutations of the GDF5 gene. The disorder is characterized by severe dwarfism, hypomelia, and deformation of both limbs, and various other bone anomalies can be present.
Chondrodysplasia, Grebe type | ||||
Acromesomelic dysplasia, Demirhan type | ||||
Acromesomelic dysplasia, Grebe type | ||||
GDF5 | ||||
Acromesomelic dysplasia, Hunter-Thompson type | ||||
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. |
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8. |
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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 |