title: Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.
authors.affiliation: Department of Obstetrics and Gynecology, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Giancotti
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Antonella
authors.initials: A
authors.lastname: Spagnuolo
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Valentina
authors.initials: V
authors.lastname: D'Ambrosio
authors.forename: Gaia
authors.initials: G
authors.lastname: Pasquali
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3