|本期目录/Table of Contents|

[1]张淑欣,许庆玲,郑荣秀.X-性连锁先天性肾上腺发育不良1例报道[J].天津医科大学学报,2020,26(05):487-489.
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X-性连锁先天性肾上腺发育不良1例报道(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
26卷
期数:
2020年05期
页码:
487-489
栏目:
病例报告
出版日期:
2020-09-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2020)05-0487-03
作者:
张淑欣许庆玲郑荣秀
(天津医科大学总医院儿科,天津300052)
Author(s):
-
关键词:
肾上腺发育不良基因诊断
Keywords:
-
分类号:
R729
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] Yang J, Lv Y, Zhou Y, et al. Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment[J]. JPEM, 2017, 30(12): 1299
[2] Zhang Y H, Huang B L, Anyane-Yeboa K, et al. Nine novel mutations in NR0B1(DAX1) causing adrenal hypoplasiacongenita[J]. Human Mutation, 2001, 18(6): 547
[3] 陈席, 吕远, 崔红, 等. 两个先天性肾上腺皮质增生症家系的胚胎植入前遗传学检测[J]. 中国实用妇科与产科杂志, 2018, 34(11):1282
[4] Burke B A, Wick M R, King R, et al. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome[J]. Am J Med Genet, 1988, 31(1):75
[5] Xing Y, Morohashi K I, Ingraham H A, et al. Timing of adrenal regression controlled by synergistic interaction between Sf1 SUMOylation and Dax1[J]. Development, 2017, 144(20): 3798
[6] Jadhav U, Harris R M, Jameson J L. Hypogonadotropichypogonadism in subjects with DAX1 mutations[J]. Mol Cell Endocrinol, 2011,346(1/2): 65
[7] Krone N, Riepe F G, D?觟rr H G, et al. Thirteen novel mutations in the NR0B1(DAX1) gene as cause of adrenal hypoplasia congenita?[J].Hum Mutat, 2005,25(5):502
[8] Tsai W Y, Tung Y C. Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita[J]. JPEM,2005,18(10): 991997
[9] Landau Z, Hanukoglu A, Sack J, et al. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations[J]. Clin Endocrinol, 2010,72(4): 448
[10] 孙启虹,窦京涛. 男性低促性腺激素性性腺功能减退的临床诊断及药物治疗[J]. 药品评价, 2013, 10(7): 21
[11] 张靖. hCG和u-FSH序贯治疗低促性腺激素性腺功能减退症疗效和安全性分析[J]. 国际感染病学, 2018, 7(3): 84

相似文献/References:

[1]王 奇,张昌文,张志宏.肾上腺皮质嗜酸细胞瘤1例报告[J].天津医科大学学报,2018,24(01):23.

备注/Memo

备注/Memo:
作者简介 张淑欣(1993-),女,硕士在读,研究方向:儿科学;
通信作者:郑荣秀,E-mail: rezheng@tmu.edu.cn。
更新日期/Last Update: 2020-09-18