Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.
Three achondroplastic sisters born to normal parents are reported. This report constitutes an unique example of germinal mosaicism in the human.
D000130:Achondroplasia / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005854:Germ Cells / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009154:Mutation