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Atelosteogenesis type 2
- ... gene mutations have been identified in people with atelosteogenesis type 2, another severe disorder of cartilage and bone development. ... any functional protein.One common mutation that causes atelosteogenesis type 2 replaces the amino acid arginine with the amino ...
- ... and leading to the signs and symptoms of atelosteogenesis type 3. More About This Health Condition At least two FLNB gene mutations have been identified that cause ...