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Atelosteogenesis type 2
- Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a ...
- ... 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 ...
- ... similar to those of another skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia tends to be less severe. ...
- ... sici)1096-8628(19990305)83:13.0.co;2-g. Citation on PubMed
- ... 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 ...
- ... type I National Organization for Rare Disorders (NORD) ... JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and ...