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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations

Jacob Ilany1, Jiayan Liu2, Christoph Welsch3

  • 1Institute of Endocrinology, Sheba Medical Center, Tel-Hashomer, Israel.

The Journal of Clinical Endocrinology and Metabolism
|November 27, 2020
PubMed
Abstract

Keywords:
21-hydroxylasecongenital adrenal hyperplasiageneticssalt-wasting

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