title: 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.
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Silvia
authors.initials: S
authors.lastname: Morlino
authors.forename: Francesca Clementina
authors.initials: FC
authors.lastname: Radio
authors.forename: Carmelilia
authors.initials: C
authors.lastname: De Bernardo
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3