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Atelosteogenesis type 1
- Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born ...
- ... FLNB gene mutations have been identified that cause atelosteogenesis type 1, a disorder that affects the development of bones ... and leading to the signs and symptoms of atelosteogenesis type 1. More About This Health Condition At least six ...
- ... la Chapelle dysplasia McAlister dysplasia Neonatal osseous dysplasia 1 Genetic Testing Registry: Atelosteogenesis type II Atelosteogenesis type II National Organization for Rare ...
- ... and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 2006 Jun 1;140(11):1143-7. doi: 10.1002/ajmg. ...
- ... Am J Med Genet. 1999 Mar 5;83(1):28-42. doi: 10.1002/(sici)1096-8628(19990305)83:13.0.co;2-g. Citation on PubMed
- ... similar to those of another skeletal disorder called atelosteogenesis type 2; however, ... researchers estimate that it affects about 1 in 500,000 newborns in the United States. ...