Complement Component 4 Copy Number Variation and CYP21A2 Genotype Associations in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of cortisol biosynthesis caused by CYP21A2 mutations. An increase in gene copy number variation (CNV) exists at the CYP21A2 locus. CNV of C4, a neighboring gene that encodes...

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Autori principali: Chen, Wuyan, Xu, Zhi, Nishitani, Miki, Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3493742/
https://ncbi.nlm.nih.gov/pubmed/22886582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-012-1217-8
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