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
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 2025
Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.
Chen X et al.
Molecular Genetics & Genomic Medicine, 2024
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
Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
Lao Q et al.
Genes, 2023
Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.
Yamaguchi T et al.
Frontiers in Genetics, 2023
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Paragliola RM et al.
Journal of Clinical Medicine, 2022
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
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Green C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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