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Updated: Sep 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort

Clément Janot1,2,3, Delphine Mallet1, Alexandre Janin1,4

  • 1Hospices Civils de Lyon, LBMMS, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Lyon F-69000, France.

The Journal of Clinical Endocrinology and Metabolism
|August 19, 2025
PubMed
Abstract

Keywords:
CYP11B111β-hydroxylase deficiencycongenital adrenal hyperplasiamolecular biologysplicing

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