title: Multiplex ligation-dependent probe amplification analysis is useful for diagnosing congenital adrenal hyperplasia but requires a deep knowledge of CYP21A2 genetics.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Enrica
authors.initials: E
authors.lastname: Mello
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D018628:Gene Dosage; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D015345:Oligonucleotide Probes; D011544:Pseudogenes / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase