Work

First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2025-110880

Authors: Clément Janot, Kahina Mohammedi, Delphine Mallet, Kévin Choron, Ingrid Plotton, Jordan Teoli, Asmahane Ladjouze, Florence Roucher-Boulez

Institutions: Lyon 1 Université, Inserm, Hospices Civils de Lyon, Institut Cellule Souche et Cerveau

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4413308983

FWCI: 0.256

Cites: 20

Cited by: 1

Related to: 10