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

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...

Full description

Bibliographic Details
Main Authors: Roseane Lopes da Silva-Grecco, Débora de Paula Michelatto, Carolina Rodrigues Lincoln-de-Carvalho, Pamela Pontes Henrique, Heloísa Marcelina da Cunha, Maricilda Palandi-de-Mello
Format: Article
Language:English
Published: Elsevier 2015-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
CYP21A2 gene
CYP21A1 pseudo gene
21-Hydroxylase deficiency
Congenital adrenal hyperplasia
In vitro fertilization
Non-classical CAH form
Online Access:http://www.sciencedirect.com/science/article/pii/S221442691530046X

Internet

http://www.sciencedirect.com/science/article/pii/S221442691530046X

Similar Items