A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen e...

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Detalles Bibliográficos
Autores principales: Silva-Grecco, Roseane Lopes da, de Paula Michelatto, Débora, Lincoln-de-Carvalho, Carolina Rodrigues, Henrique, Pamela Pontes, da Cunha, Heloísa Marcelina, Palandi-de-Mello, Maricilda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471403/
https://www.ncbi.nlm.nih.gov/pubmed/28649552
http://dx.doi.org/10.1016/j.ymgmr.2015.10.011

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