Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X

CAH-X is a hypermobility-type Ehlers–Danlos syndrome connective tissue dysplasia affecting approximately 15% of patients with 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) due to contiguous deletion of CYP21A2 and TNXB genes. The two most common genetic causes of CAH-X are...

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Detalles Bibliográficos
Autores principales: Lao, Qizong, Zhou, Kiet, Parker, Megan, Faucz, Fabio R., Merke, Deborah P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956258/
https://www.ncbi.nlm.nih.gov/pubmed/36833192
http://dx.doi.org/10.3390/genes14020265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956258/
https://www.ncbi.nlm.nih.gov/pubmed/36833192
http://dx.doi.org/10.3390/genes14020265

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