Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disord...

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Hauptverfasser: Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2013
Schlagworte:
JCEM Online: Advances in Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3708032/
https://ncbi.nlm.nih.gov/pubmed/23365120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3449
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