共 50 条
- [1] Heterozygous POR gene mutations in a patient with congenital adrenal hyperplasia Endocrine, 2022, 77 : 401 - 402
- [2] Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report BMC Endocrine Disorders, 22
- [5] A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (11): : 3983 - 3987
- [6] Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2016,
- [8] ADRENAL INCIDENTALOMA AND PATIENTS WITH HOMOZYGOUS OR HETEROZYGOUS CONGENITAL ADRENAL-HYPERPLASIA JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1992, 74 (03): : 685 - 689