医学
先天性肾上腺增生
低钠血症
色素沉着
儿科
高钾血症
呕吐
原发性肾上腺功能不全
促肾上腺皮质激素
内科学
内分泌学
激素
肾上腺功能不全
皮肤病科
作者
Wanfang Zheng,Yongrui Duan,Bowen Xiao,Lili Liang,Yuanqing Xia,Ziwei Gong,Yuting Sun,Haiyang Zhang,Lianshu Han,R F Wang,Yunfei Yang,Xia Zhan,Yong-Sheng Yu,Xuefan Gu,Wei Qiu
出处
期刊:PubMed
[National Institutes of Health]
日期:2022-10-02
卷期号:60 (10): 1066-1071
被引量:1
标识
DOI:10.3760/cma.j.cn112140-20220322-00233
摘要
Patients with classic CLAH typically present with signs and symptoms of primary adrenal insufficiency in the early infancy period and female external genitalia. p.Q258*, p.K236Tfs*47 and p.Q77* are common variants in CLAH patients.
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