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
Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.
Figueras LM et al.
Advances in Laboratory Medicine, 2023
Recurrent pneumothorax in a case of tenascin-X deficient Ehlers-Danlos syndrome: Broadening the phenotypic spectrum.
Santoreneos R et al.
American Journal of Medical Genetics. Part A, 2022
CAH-X Syndrome: Genetic and Clinical Profile.
Concolino P et al.
Molecular Diagnosis & Therapy, 2022
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
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
Gao Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Micale L et al.
Genes, 2019
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
Chen W et al.
Human Mutation, 2016
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