Associated Papers
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Lao Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Claps A et al.
Scientific Reports, 2025
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Lao Q et al.
Molecular Genetics & Genomic Medicine, 2021
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