Associated Papers
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
40640193 (PubMed )
Supplement: 41598_2025_3799_MOESM1_ESM.docx
Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD.
Lan T et al.
Frontiers in Genetics, 2024
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
Kim JH et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
Fanis P et al.
Hormones (athens, Greece), 2023
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R et al.
Frontiers in Endocrinology, 2022
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
Carrozza C et al.
Frontiers in Endocrinology, 2021
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.
Micale L et al.
Advances in Experimental Medicine and Biology, 2021
Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.
Li X et al.
Medicine, 2020
32000458 (PubMed )
Supplement: medi-99-e19076-s002.xlsx › Supp_Table2._somatic_SNVs
Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
Miller WL et al.
Hormone Research in Paediatrics, 2018
Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
Morissette R et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Stewart DR et al.
Plos One, 2014
24892279 (PubMed )
Supplement: pone.0098686.s004.xlsx › Sheet1
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