The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation

MeSH terms

• Abortion, Induced
• Adult
• Female
• Genotype
• Humans
• Male
• Mutation*
• Phenotype*
• Pregnancy
• Receptor, Fibroblast Growth Factor, Type 3 / genetics*
• Thanatophoric Dysplasia / diagnosis
• Thanatophoric Dysplasia / genetics*