The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

OBJECTIVE: The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH) allele when inherited in a duplicated and f...

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Detalles Bibliográficos
Autores principales: Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Picolos, Michalis, Tanteles, George A., Neocleous, Vassos, Phylactou, Leonidas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266209/
https://www.ncbi.nlm.nih.gov/pubmed/37324257
http://dx.doi.org/10.3389/fendo.2023.1156616

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266209/
https://www.ncbi.nlm.nih.gov/pubmed/37324257
http://dx.doi.org/10.3389/fendo.2023.1156616

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