Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic...

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Detalles Bibliográficos
Autores principales: Kim, Ja Hye, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329939/
https://www.ncbi.nlm.nih.gov/pubmed/37401054
http://dx.doi.org/10.6065/apem.2346108.054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329939/
https://www.ncbi.nlm.nih.gov/pubmed/37401054
http://dx.doi.org/10.6065/apem.2346108.054

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