title: CYP21A2 genetics: When genotype does not fit phenotype.
authors.affiliation: Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Sani
authors.affiliation: Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Aurora Natalia
authors.initials: AN
authors.lastname: Rossodivita
authors.affiliation: Pediatric Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Mariani
authors.affiliation: Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Costella
authors.affiliation: Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Rossana
authors.initials: R
authors.lastname: Molinario
authors.affiliation: Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy. Electronic address: paolaconcolino78@libero.it.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.affiliation: Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase
keywords: 21-hydroxylase deficiency; CYP21A2-like gene; Congenital adrenal hyperplasia; Genotype–phenotype correlation; Prenatal molecular diagnosis