Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all, discordant phenotypes caused by mutations wi...

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Detalles Bibliográficos
Autores principales: Kocova, Mirjana, Anastasovska, Violeta, Falhammar, Henrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7392929/
https://www.ncbi.nlm.nih.gov/pubmed/32367336
http://dx.doi.org/10.1007/s12020-020-02323-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7392929/
https://www.ncbi.nlm.nih.gov/pubmed/32367336
http://dx.doi.org/10.1007/s12020-020-02323-3

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