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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

DOIFull Paper Access

189

Citations

55

References

2010

Year

Gabriela P. Finkielstain, Wuyan Chen, Sneha P. Mehta, Frank K. Fujimura, Reem Hanna, Carol Van Ryzin, Nazli B. McDonnell, Deborah P. Merke
The Journal of Clinical Endocrinology & Metabolism

Abstract

Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation.

References

YearCitations

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