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B. K. Li, Ding, Q., Wan, X. D., and Wang, X., Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family, vol. 10, pp. 1022-1031, 2011.
Ahmed SF, Cheng A, Dovey L, Hawkins JR, et al. (2000). Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J. Clin. Endocrinol. Metab. 85: 658-665. doi:10.1210/jc.85.2.658 Alvarez NR, Lee TM and Solorzano CC (2005). Complete androgen insensitivity syndrome: the role of the endocrine surgeon. Am. Surg. 71: 241-243. PMid:15869141 Avila DM, Wilson CM, Nandi N, Griffin JE, et al. (2002). Immunoreactive AR and genetic alterations in subjects with androgen resistance and undetectable AR levels in genital skin fibroblast ligand-binding assays. J. Clin. Endocrinol. Metab. 87: 182-188. doi:10.1210/jc.87.1.182 Beitel LK, Prior L, Vasiliou DM, Gottlieb B, et al. (1994). Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. Hum. Mol. Genet. 3: 21-27. doi:10.1093/hmg/3.1.21 PMid:8162033 Brinkmann AO (2001). Molecular basis of androgen insensitivity. Mol. Cell. Endocrinol. 179: 105-109. doi:10.1016/S0303-7207(01)00466-X Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, et al. (2008). Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J. Urol. 180: 1496-1501. doi:10.1016/j.juro.2008.06.045 PMid:18710728 Cools M, Looijenga LH, Wolffenbuttel KP and Drop SL (2009). Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. World J. Pediatr. 5: 93-102. doi:10.1007/s12519-009-0020-7 PMid:19718530 Fogu G, Bertini V, Dessole S, Bandiera P, et al. (2003). Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis. Arch. Gynecol. Obstet. 269: 25-29. doi:10.1007/s00404-002-0386-4 PMid:14605819 Gottlieb B, Beitel LK, Wu JH and Trifiro M (2004). The androgen receptor gene mutations database (ARDB): 2004 update. Hum. Mutat. 23: 527-533. doi:10.1002/humu.20044 PMid:15146455 Hashmi A, Hanif F, Hanif SM, Abdullah FE, et al. (2008). Complete androgen insensitivity syndrome. J. Coll. Phys. Surg. Pak. 18: 442-444. PMid:18760072 Jaaskelainen J, Mongan NP, Harland S and Hughes IA (2006). Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. Hum. Mutat. 27: 291. doi:10.1002/humu.9405 PMid:16470553 MacLean HE, Ball EM, Rekaris G, Warne GL, et al. (2004). Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. Hum. Mutat. 23: 287. doi:10.1002/humu.9221 PMid:14974091 MacLean HE, Favaloro JM, Warne GL and Zajac JD (2006). Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formation. Hum. Mutat. 27: 483-489. doi:10.1002/humu.20327 PMid:16619235 McPhaul MJ, Marcelli M, Zoppi S, Griffin JE, et al. (1993). Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J. Clin. Endocrinol. Metab. 76: 17-23. doi:10.1210/jc.76.1.17 Melo KF, Mendonca BB, Billerbeck AE, Costa EM, et al. (2003). Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J. Clin. Endocrinol. Metab. 88: 3241-3250. doi:10.1210/jc.2002-021658 Nitsche EM and Hiort O (2000). The molecular basis of androgen insensitivity. Horm. Res. 54: 327-333. doi:10.1159/000053282 PMid:11595828 Oakes MB, Eyvazzadeh AD, Quint E and Smith YR (2008). Complete androgen insensitivity syndrome--a review. J. Pediatr. Adolesc. Gynecol. 21: 305-310. doi:10.1016/j.jpag.2007.09.006 PMid:19064222 Quigley CA, De Bellis A, Marschke KB, el-Awady MK, et al. (1995). Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr. Rev. 16: 271-321. PMid:7671849 Quigley CA, Tan JA, He B, Zhou ZX, et al. (2004). Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. Mech. Ageing Dev. 125: 683-695. doi:10.1016/j.mad.2004.08.007 PMid:15541764 Ris-Stalpers C, Verleun-Mooijman MC, de Blaeij TJ, Degenhart HJ, et al. (1994). Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site. Am. J. Hum. Genet. 54: 609-617. PMid:8128958    PMCid:1918097 Ross GT (1985). Disorders of the Ovary and Female Reproductive Tract. 7th edn. In: William Textbook of Endocrinology (Wilson JD and Foster DW, eds.). Saunders WB, Philadelphia, 206-258. Tian QJ, Dai ZQ, Yu W, Tian JP, et al. (2005). Study of bone mineral density in complete androgen insensitivity syndrome patients. Zhonghua Fu Chan Ke Za Zhi 40: 799-802. PMid:16412322 Ulloa-Aguirre A, Carranza-Lira S, Mendez JP, Angeles A, et al. (1990). Incomplete regression of mullerian ducts in the androgen insensitivity syndrome. Fertil. Steril. 53: 1024-1028. PMid:2112490 Wilson JD, Leihy MW, Shaw G and Renfree MB (2002). Androgen physiology: unsolved problems at the millennium. Mol. Cell. Endocrinol. 198: 1-5. doi:10.1016/S0303-7207(02)00362-3