Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01694.x/fullpdf
Reference27 articles.
1. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.;Votava;Eur J Endocrinol,2005
2. Impact of molecular genetics on congenital adrenal hyperplasia management.;Balsamo;Sex Dev,2010
3. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.;Speiser;J Clin Endocrinol Metab,2010
4. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.;Nimkarn;Endocrinol Metab Clin North Am,2009
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2. Neonatal Screening;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2022
3. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia;The Journal of Steroid Biochemistry and Molecular Biology;2021-07
4. Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia;Journal of Clinical Medicine;2021-03-12
5. Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme;International Journal of Neonatal Screening;2020-08-12
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