Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the resu...

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Detalhes bibliográficos
Autor principal: Gonçalves, J (author)
Outros Autores: Friães, A (author), Moura, L (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Texto completo:http://hdl.handle.net/10400.4/1902
País:Portugal
Oai:oai:rihuc.huc.min-saude.pt:10400.4/1902