Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

CONTEXT: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking. OBJECTIVE: The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations inf...

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Hauptverfasser: Krone, Nils, Rose, Ian T., Willis, Debbie S., Hodson, James, Wild, Sarah H., Doherty, Emma J., Hahner, Stefanie, Parajes, Silvia, Stimson, Roland H., Han, Thang S., Carroll, Paul V., Conway, Gerry S., Walker, Brian R., MacDonald, Fiona, Ross, Richard J., 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/PMC3651585/
https://ncbi.nlm.nih.gov/pubmed/23337727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3343
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