Associated Papers
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Chan K et al.
Frontiers in Genetics, 2026
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.
Yildiz M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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