title: Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
authors.forename: L
authors.initials: L
authors.lastname: Di Pasquale
authors.forename: S
authors.initials: S
authors.lastname: Indovina
authors.forename: M
authors.initials: M
authors.lastname: Wasniewska
authors.forename: S
authors.initials: S
authors.lastname: Mirabelli
authors.forename: P
authors.initials: P
authors.lastname: Porcelli
authors.forename: I
authors.initials: I
authors.lastname: Rulli
authors.forename: G
authors.initials: G
authors.lastname: Salzano
authors.forename: F
authors.initials: F
authors.lastname: De Luca
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D013255:Steroid 21-Hydroxylase