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题 名: | HSD3B2基因p.E25X新纯合突变致失盐型3β-羟类固醇脱氢酶缺乏症一例及文献复习 | ||||||||||
第一作者: | 黄永兰 | ||||||||||
期刊名称: | 中华儿科杂志 | 出版年 | 2014 | 卷 | 52 | 期 | 12 | ||||
Title: | A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts | ||||||||||
First author:: | |||||||||||
Journal: | Chinese Journal of Pediatrics | ||||||||||
Year | 2014 | Volume | 52 | Issue | 12 | ||||||
doi: | 10.3760/cma.j.issn.0578-1310.2014.12.015 | ||||||||||
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请任选一个链接找到文章全文: | |||||||||||
万方知识服务平台 | |||||||||||
万方医学网 |