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- [22] A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (06): : 781 - 787
- [24] Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (09): : 1215 - 1221