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- ... aplastic anemia caused by TERT gene mutations may actually represent a late-onset form of dyskeratosis congenita ...
- ... and dentinogenesis imperfecta types II and III are actually forms of a single disorder.About half of ...
- ... researchers have suggested that individuals with DFNB2 may actually have Usher syndrome (described below), because some individuals ...
- ... syndrome resulting from a CHD7 gene mutation may actually represent a mild form of CHARGE syndrome.Most ...
- ... intellectual disability. However, researchers speculate that it may actually be part of the same disease spectrum as ...
- ... autosomal omodysplasia, but researchers now believe that it actually represents a subtype of autosomal dominant Robinow syndrome. ...
- ... ESH, and early-onset Paget disease of bone actually may be slightly different forms of a single ...
- ... aplastic anemia caused by TERC gene mutations may actually represent a late-onset form of dyskeratosis congenita ...
- ... ADNFLE. Some researchers suspect that the known mutation actually causes a separate form of epilepsy with features ...
- ... Researchers are uncertain whether this rare condition is actually a subtype of epidermolysis bullosa simplex or represents ...