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Atelosteogenesis type 1
- ... 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 ...
- ... 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. ...