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I I Larina1, N V Makazan1, K V Ivashchenko1

  • 1Endocrinology Research Centre.

Problemy endokrinologii
|March 4, 2024
PubMed
概括

初级葡萄糖皮质体耐药性,一种对葡萄糖皮质体 (GC) 不敏感的情况,通常涉及NR3C1基因缺陷. 这个案例突出了一个青少年,尽管没有NR3C1突变,但具有GC耐药性,扩大了这种罕见疾病的已知的遗传景观.

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