Associated Papers
Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.
Concolino P
Molecular Diagnosis & Therapy, 2024
Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.
Li J et al.
Frontiers in Endocrinology, 2023
38027139 (PubMed )
Supplement: DataSheet_1.docx
A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
Duan L et al.
Bmc Endocrine Disorders, 2018
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