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- GDF5
- GHRHR : growth hormone releasing hormone receptor
- SASS6
- GDF7
- Achondroplasia
- Thanatophoric Dysplasia
- Seckel Syndrome
- Rothmund-Thomson Syndrome
- Rhizomelic Chondrodysplasia Punctata (RCDP)
- Mabry Syndrome
- Russell-Silver Syndrome
- Mucopolysaccharidosis Type IV (MPS IV Morquio syndrome)
- Roberts Syndrome
- Cartilage-Hair Hypoplasia (CHH)