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

BACKGROUND: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p21.3, the CYP21A2 gene is partially overlapped by the TNXB gene, the two residing in tandem with their highly homologous corresponding pseu...

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Detalles Bibliográficos
Autores principales: Fanis, Pavlos, Skordis, Nicos, Phylactou, Leonidas A., Neocleous, Vassos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011304/
https://www.ncbi.nlm.nih.gov/pubmed/36264454
http://dx.doi.org/10.1007/s42000-022-00410-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011304/
https://www.ncbi.nlm.nih.gov/pubmed/36264454
http://dx.doi.org/10.1007/s42000-022-00410-w

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