[Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003; 349(8): 776-788.10.1056/NEJMra02156112930931]Search in Google Scholar
[New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont B, Storner E, Levy DJ, Pang S, Levine LS. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data. J Clin Endocrinol Metab 1983; 57(2): 320-326.10.1210/jcem-57-2-3206306039]Search in Google Scholar
[Miller WL, Morel Y. The molecular genetics of 21-hydroxylase deficiency. Annu Rev Genet 1989; 23:371-393.10.1146/annurev.ge.23.120189.0021032694937]Search in Google Scholar
[Speiser PW, New MI, While PC. Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14, DR1. N Engl J Med 1988; 319(1): 19-23.10.1056/NEJM1988070731901043260007]Search in Google Scholar
[Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A. New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37(4): 650-667.]Search in Google Scholar
[White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrinol Rev 2000; 21(3): 245-291.]Search in Google Scholar
[Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a Middle European population. J Clin Endocrinol Metab 2005; 90(2): 775-778.10.1210/jc.2004-172815572419]Search in Google Scholar
[Strachan T. Molecular patology of 21-hydroxylase deficiency. J Inher Metab Dis 1994; 17(4): 430-441.10.1007/BF007113587967493]Search in Google Scholar
[Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Speiser PW, Day DJ. Genotyping og CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1999; 84(3): 960-966.]Search in Google Scholar
[White PC, Tusie-Luna MT, New MI, Speiser PW. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994; 3(4): 373-378.10.1002/humu.13800304088081391]Search in Google Scholar
[Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986; 83(9): 2841-2845.10.1073/pnas.83.9.28413234023486422]Search in Google Scholar
[Tusié-Luna MT, White PC. Gene conversion and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 1995; 92(23): 10796-10800.10.1073/pnas.92.23.10796406997479886]Search in Google Scholar
[White PC, New MI, Dupont B. Structure of the human steroid 21-hydroxylase gene. Proc Natl Acad Sci USA 1986; 83(14): 5111-5115.10.1073/pnas.83.14.51113239003487786]Search in Google Scholar
[Jaaskelainen J, Levo A, Voutilainen R, Partanen J. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in well defined population. J Clin Endocrinol Metab 1997; 82(10): 3293-3297.10.1210/jc.82.10.3293]Search in Google Scholar
[Krone N, Braun A, Rosher AA, Knorr D, Schwarz HP. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 2000; 85(3): 1059-1065.10.1210/jcem.85.3.6441]Search in Google Scholar
[Rosha RO, Billerbeck AEC, Pinto EM, Melo KFS, Lin CJ, Longui CA, Mendoca BB, Bachega TASS. The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androghen receptor gene. Clin Endocrinol 2008; 68(2): 226-232.]Search in Google Scholar
[Fardella CE, Poggi H, Pineda P, Soto J, Torrealba I, Cattani A, Oestreicher E, Foradori A. Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population. J Clinic Endocrinol Metab 1998; 83 (9): 3357-3360.10.1210/jc.83.9.3357]Search in Google Scholar
[Mornet E, Crété P, Kuttenn F, Raux-Demay MCh, Boué J, White PC, Boué A. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 1991; 48(1): 79-88.]Search in Google Scholar
[Arlt W, Walker EA, Draper N, Ivison HE, Ride JP, Hammer F, Chalder SM, Bozucka-Mankiewicz M, Hauffe BP, Malunowicz EM, Stewart PM, Shackleton CHL. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 2004; 363(9427): 2128-2135.10.1016/S0140-6736(04)16503-3]Search in Google Scholar
[Efremov GD, Dimovski AJ, Plaseska-Karanfilska D, Simjanovska L, Sukarova E, Koceva S. Laboratory Manual, 3rd ed. Nucleic Acid Based Methods in Human and Veterinerary Medicine. ICGEB Affiliated Center. Skopje, Republic of Macedonia, 1999.]Search in Google Scholar
[Lee HH, Chao HT, Ng HT, Choo KB. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 1996; 33(5): 371-375.10.1136/jmg.33.5.37110506048733045]Search in Google Scholar
[Wedell A. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implication for diagnosis, prognosis ant treatment. Acta Pediatr 1998; 87(2): 159-164.10.1111/j.1651-2227.1998.tb00968.x]Search in Google Scholar
[Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestations. J Clin Endocrinol Metab 1994; 78(5): 1145-1152.10.1097/00006254-199410000-00020]Search in Google Scholar
[Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia. Iran Biomed J 2008; 12(1): 49-53.]Search in Google Scholar
[Dolžan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Voltava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frish H, Stopar-Obreza M, Kržišnik C. Battelino T. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in the Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005; 153(1): 99-106.10.1530/eje.1.0194415994751]Search in Google Scholar
[Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1996; 81(11): 4081-4088.]Search in Google Scholar
[Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna M-T. Lesser M, New MI, White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90(2): 584-595.10.1172/JCI1158974431371644925]Search in Google Scholar
[Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missence mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: Possible gene conversion products. Proc Natl Acad Sci USA 1988; 85(20): 7486-7490.10.1073/pnas.85.20.74862822162845408]Search in Google Scholar
[Day DJ, Speiser PhW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Molec Genet 1996; 5(12): 2039-2048.10.1093/hmg/5.12.2039]Search in Google Scholar
[Dolžan V, Stopar-Obreza M, Žerjav-Tanšek M, Breskvar K, Kržišnik C, Battelino T. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Eur J Endocrinol 2003; 149(2): 137-144.10.1530/eje.0.1490137]Search in Google Scholar
[Miller WL. Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. J Molec Endocrinol 1997; 19(3): 227-240.10.1677/jme.0.0190227]Search in Google Scholar
[Rice DA, Kronenberg MS, Mouw AR, Aitken LD, Franklin A, Schimmer BP, Parker KL. Multiple regulatory elements determine adrenocortical expression of steroid 21-hydroxylase. J Biol Chem 1990; 265(14): 8052-8058.10.1016/S0021-9258(19)39037-4]Search in Google Scholar
[Donohoue PA, Collins MM. The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences: comparasion and identification of possible regulatory elements. Biochem Biophys Res Commun 1992; 186(1): 256-262.10.1016/S0006-291X(05)80801-0]Search in Google Scholar
[Gomes LG, Huang N, Agrawal V, Mendonca BB, Bachega TASS, Miller WL. The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. J Clin Endocrinol Metab 2008; 93(7): 2913-2916.10.1210/jc.2008-0304245304818397975]Search in Google Scholar
[Wilson RC, Mercado AB, Cheng KC, New MI. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype. J Clin Endocrinol Metab 1995; 80(8): 2322-2329.]Search in Google Scholar