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16046588,14733808,10720040,12915679,23570880,15775714,12503858,27041116,25911436,21609351,21274396,31693496,31006099,23027774,9920112,26804566,29626607,27376426,26476331,26233337,30968594,15493145,18825878,19347184,24022297,32614782,20523022,14514162,19856253,15994751,22210247,30889569,18392095,18661760,31446012,21175091,27890570,21258279,17573904,14715874,26956189,14502362,16024935,22020670,10364682,34341969,20926536,27316665,25817499,36343887,11598371,23359698,23337727,24536089,10404805,27185867,11397897,24302749,19062540,15670187,17556864,10408786,23600966,10971093,26806323,20838032,7749410,19449670,12428205,9713558,19499972,18973462,34821488,21570420,19531083,19500762,30419250,11600539,23345044,20331679,10830908,29996815,24503005,18319307,9364343,9583072,15807871,12887291,22841790,26278268,16427797,29858860,37008950,32959514,19208730,26291314,14676460,29450859,16670167,9215318,16022377,17628913,21198393,28514642,22588921,25041270,19226270,28228528,19501079,16912133,28644547,25227725,26126207,33785438,31026224,11571713,22886582,25913739,9881898,33168061,16984992,33864926,28639595,35838129,26206692,36927563,14671153,23370425,14682466,34697763,20818501,27380651,11022183,23450479,31586465,16636976,25025300,21134444,20089618,31505704,23044877,12966197,18028896,11220701,20024693,23142378,23073904,26903061,14671187,26184920,14983655,31217034,17275379,25501839,30241518,30816000,24799024,24334966,29909741,15627780,17057407,30817301,12966519,15483094,32367336,12028996,16487445,23692712,12481658,17481616,27596083,30048636,28962970,9435454,9132494,17466088,12174671,30611409,29035424,26848581,22017335,15572419,32358738,34718183,25481255,18039588,29684512,24229585,28521877,35079965,35255871,20080860,22921894,24953648,36929050,24621779,30242600,10792340,15751602,10968484,19844121,18067083,20482300,34766491,32164112,30917440,24630263,21750395,34823514,22964742,16551734,12384784,15110320,21635882,28415939,9302260,10931088,35714169,11874416,16641859,19170707,28819757,17164306,19228439,23146819,16728546,27984606,35140681,19085698,14556206,21762683,30512157,11265620,35882282,19773403,30982438,24904866,18655532,37011374,18445671,20947076,32289882,17666484,23284009,33677812,22802425,12510987,1496017,9761237,15126570,15943551,16028060,20639616,25630015,27928728,30179867,15751603,20970527,28640966,31344365,28356824,26280318,16171792,16010485,8969935,8968761,36494191,20080854,14656479,32687482,16822826,24928004,32291442,21325254,31805392,24355046,35990289,10496074,16541276,19201236,32272826,35685215,10189236,24476073,33605469,21098686,23907417,22040027,19499408,8506298,18777204,33482002,15027205,27376433,24622265,32388791,26053152,24852906,17694353,22978668,36992809,30703227,31393570,32965796,33710594,28669219,19272182,17047018,9580109,8136301,28759182,10435060,10908170,12050231,11836313,9512201,18787377,23045419,23769969,16772352,29266270,30480408,3077248,30811025,17033937,30786337,10690861,35422767,21912141,19819201,26075496,17766717,29703198,15761543,20466782,32131114,23322511,21664262,17172090,15055349,7488170,33552641,28450075,7588399,29429350,10229037,14664429,21164261,28359061,14586796,23940125,14715827,33830237,14715880,30465166,35499511,19567521,33994073,11819084,12072053,30703223,34397083,20978868,33708317,11739456,8931696,23163125,31666125,27777794,35756349,12220458,29412390,7889175,22629504,24452876,21264314,19347818,17803691,18204270,16986724,16793961,17380893,26184415,8880587,26388637,25736066,16912124,10536001,18478071,34601607,17598237,17598238,18381579,22343390,33275286,12038604,11196454,29369603,36972943,21532487,9829208,27654981,33245778,9441866,19420818,33666875,18386334,12065936,3498630,26970786,29791178,16834664,17230656,28672743,30806372,26265915,11004722,15761541,18420648,29316814,29419855,20951518,36447832,32761585,17223983,26336836,30611420,23927611,36493354,12793610,16887450,35008721,18996819,17598208,8372604,19427150,19530065,9790262,28541281,35363313,33505466,17505149,29252197,21169732,27966633,10798363,22497080,15830218,32286592,12008686,26209023,17634211,19039234,35476220,28870780,30223866,23298233,24987415,33604243,21169730,17145028,8004113,18029470,17598239,17598236,17598235,18397975,30559721,19137635,30470203,35106260,15135781,34629741,26425475,12050257,19058224,28649552,23342490,21164262,15323380,21672447,33824469,18719294,36866166,27633475,28945916,31588535,25402394,25100385,27150612,10461019,8192919,31388123,9863599,9212186,31950145,12876421,1306840,16817483,14513879,21329531,9556656,30611412,35309130,22908133,25883920,8330883,25983757,31536251,35067946,32647925,34370296,31572633,19724639,8076952,27125451,21915484,36214299,12843205,31333583,17992539,29157486,26722148,20960659,30743773,33455128,11730764,33854360,32850530,29892641,1185368,9580211,33768909,19636210,35164471,30561707,30561699,12107195,10599752,32071409,20339513,30407499,33964163,27510867,23961467,23926370,21436997,27545026[uid]

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21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E. Grigorescu Sido A, et al. J Clin Endocrinol Metab. 2005 Oct;90(10):5769-73. doi: 10.1210/jc.2005-0379. Epub 2005 Jul 26. J Clin Endocrinol Metab. 2005. PMID: 16046588

[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].

Liao XY, Zhang YF, Gu XF. Liao XY, et al. Zhonghua Er Ke Za Zhi. 2003 Sep;41(9):670-4. Zhonghua Er Ke Za Zhi. 2003. PMID: 14733808 Chinese.

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP. Krone N, et al. J Clin Endocrinol Metab. 2000 Mar;85(3):1059-65. doi: 10.1210/jcem.85.3.6441. J Clin Endocrinol Metab. 2000. PMID: 10720040 Clinical Trial.

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA. Stikkelbroeck NM, et al. J Clin Endocrinol Metab. 2003 Aug;88(8):3852-9. doi: 10.1210/jc.2002-021681. J Clin Endocrinol Metab. 2003. PMID: 12915679

A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE Jr, Moreira AC, Antonini SR, de Castro M. Coeli-Lacchini FB, et al. Gene. 2013 Sep 10;526(2):239-45. doi: 10.1016/j.gene.2013.03.082. Epub 2013 Apr 6. Gene. 2013. PMID: 23570880 Free article.

Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.

Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR. Vakili R, et al. Horm Res. 2005;63(3):119-24. doi: 10.1159/000084570. Epub 2005 Mar 17. Horm Res. 2005. PMID: 15775714

Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).

Grigorescu-Sido A, Schulze E, Grigorescu-Sido P, Heinrich U, Nistor T, Duncea I. Grigorescu-Sido A, et al. J Pediatr Endocrinol Metab. 2002 Nov-Dec;15(9):1505-14. doi: 10.1515/jpem.2002.15.9.1505. J Pediatr Endocrinol Metab. 2002. PMID: 12503858

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI. Dumic KK, et al. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):51-56. doi: 10.1016/j.jsbmb.2016.03.035. Epub 2016 Mar 31. J Steroid Biochem Mol Biol. 2017. PMID: 27041116

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z. Wang X, et al. Steroids. 2015 Aug;100:11-6. doi: 10.1016/j.steroids.2015.04.003. Epub 2015 Apr 21. Steroids. 2015. PMID: 25911436

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A. Marino R, et al. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351

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