"Unstable premutation" in achondroplasia: penetrance vs phenotrance.
D000130:Achondroplasia / Q000235:genetics*; D000328:Adult; D004843:Epistasis, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D010641:Phenotype