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21-基酶缺乏的基因型和表型:来自印度西部的一个单一中心的经验

Manjiri Karlekar1, Rohit Barnabas1, Vijaya Sarathi2

  • 1Department of Endocrinology, Seth G.S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Indian pediatrics
|July 25, 2024
PubMed
概括

印度21-基酶缺陷的遗传分析显示了常见的突变,如删除/大基因转换 (Del/LGC) 和反复变异,非经典先天性上腺增生率低.

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