Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.
Perroni
L
L
Faravelli
F
F
Cusano
R
R
Forzano
F
F
De Cassan
P
P
Baldo
C
C
Dagna Bricarelli
F
F
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*