换一批
换一批A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
作者：
主题词
17-α-羟孕酮(17-alpha-Hydroxyprogesterone);肾上腺功能减退(Adrenal Insufficiency);促肾上腺皮质激素(Adrenocorticotropic Hormone);隐睾(Cryptorchidism);周期素依赖激酶抑制剂p57(Cyclin-Dependent Kinase Inhibitor p57);外显子(Exons);胎儿生长迟缓(Fetal Growth Retardation);生殖器疾病, 男(雄)性(Genital Diseases, Male);人类(Humans);氢化可的松(Hydrocortisone);婴儿, 新生(Infant, Newborn);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);突变(Mutation);骨软骨发育不良(Osteochondrodysplasias);阴茎(Penis);蛋白质类(Proteins);肾素(Renin);泌尿生殖系统畸形(Urogenital Abnormalities)
DOI
10.1186/s12881-018-0546-4
PMID
29506479
发布时间
2022-12-07
- 浏览11
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
