[Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening].
Soriano Guillén
Leandro
L
Velázquez De Cuellar Paracchi
María
M
Ezquieta
Begoña
B
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000324:Adrenocorticotropic Hormone; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D005838:Genotype; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D025202:Molecular Diagnostic Techniques; D015997:Neonatal Screening / Q000379:methods*; D010375:Pedigree; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000097:blood / Q000235:genetics*
D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase; D006854:Hydrocortisone