Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with genotype and the expected residu...

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Detalles Bibliográficos
Autores principales: Lao, Qizong, Burkardt, Deepika D., Kollender, Sarah, Faucz, Fabio R., Merke, Deborah P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337281/
https://www.ncbi.nlm.nih.gov/pubmed/37157918
http://dx.doi.org/10.1002/mgg3.2195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337281/
https://www.ncbi.nlm.nih.gov/pubmed/37157918
http://dx.doi.org/10.1002/mgg3.2195

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