Side-chain cleavage enzyme deficiency: Systematic review and case series.
Clinical endocrinology(2023)
摘要
SCCD-TMG is associated with four specific genotypes and distinct gonadal characteristics from SCCD-AG with overlapping features of PAI.
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关键词
gonadal function,novel mutation,side-chain cleavage enzyme deficiency,testicular adrenal rest tumours
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