A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious p...

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Detalhes bibliográficos
Publicado no:Int J Endocrinol
Main Authors: Alqahtani, Mohammad A., Shati, Ayed A., Zou, Minjing, Alsuheel, Ali M., Alhayani, Abdullah A., Al-Qahtani, Saleh M., Gilban, Hessa M., Meyer, Brain F., Shi, Yufei
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525762/
https://ncbi.nlm.nih.gov/pubmed/26265915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/595164
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