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Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, considering the miscegenation of the Brazilian population, it...

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Detalles Bibliográficos
Autores principales: Hosomi, Silvério S., Salles, Igor C., Bachega, Tânia A. S. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10247253/
https://www.ncbi.nlm.nih.gov/pubmed/37011374
http://dx.doi.org/10.20945/2359-3997000000593