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Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase

Ayaka Harada1, Takatoshi Anno2, Hayato Isobe3

  • 1Diabetes, Metabolism, and Endocrinology, Kawasaki Medical School, Kurashiki, JPN.

Cureus
|December 23, 2025
PubMed

Keywords:
21-hydroxylase21-hydroxylase deficiencycluster mutationcongenital adrenal hyperplasiasalt-wasting form

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