Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

被引：0
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作者：
Tiantian Cheng
Jing Liu
Wenwen Sun
Guangyao Song
Huijuan Ma
机构：
[1] North China University of Science and Technology,Department of Internal Medicine, School of Clinical Medicine
[2] Hebei General Hospital,Department of Endocrinology and Metabolic Diseases
[3] Hebei General Hospital,Hebei Key Laboratory of Metabolic Diseases
来源：
BMC Endocrine Disorders | / 22卷
关键词：
Congenital adrenal hyperplasia (CAH), Steroid 21-hydroxylase deficiency;p.I173N,c.1451-1452delGGinsC, Case report;
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