Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS)
Author:
Funder
Amrita Vishwa Vidyapeetham University
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s42000-023-00445-7.pdf
Reference42 articles.
1. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP et al (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133–4160. https://doi.org/10.1210/jc.2009-2631
2. Pang S, Shook MK (1997) Status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr 9:419–423. https://doi.org/10.1097/00008480-199708000-00018
3. Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30:15–30. https://doi.org/10.1016/s0889-8529(08)70017-3
4. ICMR Task Force on Inherited Metabolic Disorders (2018) Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia. Indian J Pediatr 85:935–940. https://doi.org/10.1007/s12098-018-2645-9
5. Krone N, Arlt W (2009) Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 23:181–192. https://doi.org/10.1016/j.beem.2008.10.014
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