Navigating the Complex Landscape of CYP21A2 Variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-023-04951-9.pdf
Reference9 articles.
1. Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30:15–30.
2. ICMR Task Force on Inherited Metabolic Disorders. Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia. Indian J Pediatr. 2018;85:935–40.
3. Tippabathani J, Seenappa V, Murugan A, et al. Neonatal screening for congenital adrenal hyperplasia in Indian newborns with reflex genetic analysis of 21-hydroxylase deficiency. Int J Neonatal Screen. 2023;9:9.
4. Saraf S, Srivastava P, Panigrahi I, et al. Characterization of the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia. Indian J Pediatr. 2022. https://doi.org/10.1007/s12098-021-03975-3.
5. Khajuria R, Walia R, Bhansali A, Prasad R. The spectrum of CYP21A2 mutations in congenital adrenal hyperplasia in an Indian cohort. Clin Chim Acta. 2017;464:189–94.
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene;Current Issues in Molecular Biology;2024-05-16
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