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Atelosteogenesis
- ... FLNB gene mutations have been identified that cause atelosteogenesis type 1, a disorder that affects the development ... and leading to the signs and symptoms of atelosteogenesis type 1. More About This Health Condition At ...
- ... gene mutations have been identified in people with atelosteogenesis type 2, another severe disorder of cartilage and ... any functional protein.One common mutation that causes atelosteogenesis type 2 replaces the amino acid arginine with ...