[1] 王春林, 梁黎. X连锁隐性遗传性生长激素缺乏症及其相关基因的研究[J]. 中华医学遗传学杂志, 2013, 30(1): 67-69. [2] 何玺玉. 遗传代谢病的临床诊断策略[J]. 中国实用儿科杂志,2014,29(8):565-569 [3] Mullis PE. Genetics of isolated growth hormone deficiency[J]. J Clin Res Pediatr Endocrinol,2010,2:52-62. [4] Stewart DM, Tian L, Notarangelo LD, et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update[J]. Immunol Res,2007, 38:391-399. [5] Alangari A, Abobaker A, Kanegane H, et al. X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency[J]. Eur J Pediatr,2006,165:165-167. [6] Stewart DM, Tian L, Notarangelo LD, et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update[J]. Immunol Res,2008, 40:262-270. [7] Alatzoglou KS,Kelberman D, Cowell CT, et al. Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism[J]. J Clin Endocrinol Metab,2011,96:E685-690. [8] Raynaud M, Ronce N, Ayrault AD, et al. X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family[J]. Am J Med Genet, 1998, 76:255-261. [9] 韩连书. 遗传代谢病检测技术的应用及其检测结果的临床判读[J].中国实用儿科杂志,2014,29(8):569-574 [10] 曹君, 霍雅鹏, 杜杨, 等. 微卫星DNA在亲权关系鉴定中的应用[J]. 辽宁大学学报: 自然科学版, 2010, 37(2):156-159. [11] Wang CL,Liang L,Shen Z,et al. X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family[J]. Genomics, 2011, 98(6):440-444. |