title: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.
authors.forename: L
authors.initials: L
authors.lastname: Perroni
authors.forename: F
authors.initials: F
authors.lastname: Faravelli
authors.forename: R
authors.initials: R
authors.lastname: Cusano
authors.forename: F
authors.initials: F
authors.lastname: Forzano
authors.forename: P
authors.initials: P
authors.lastname: De Cassan
authors.forename: C
authors.initials: C
authors.lastname: Baldo
authors.forename: F
authors.initials: F
authors.lastname: Dagna Bricarelli
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016884:Polyendocrinopathies, Autoimmune / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*