Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China

Author:

Wang Xudong,Lu Xingxiu,Zheng Faming,Lin Kun,Liao Minjuan,Dong Yi,Chen Tiantian,He Ying,Lu Mei,Chen Jing,Li Yanfang,Mao Aiping,Zhou Yulin

Publisher

Elsevier BV

Reference32 articles.

1. Congenital adrenal hyperplasia;M K Auer;Lancet,2023

2. CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge;F Elmougy;Annals of the New York Academy of Sciences,2018

3. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome;H Falhammar;Endocrine,2015

4. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency;S Y Pang;Pediatrics,1988

5. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline;P W Speiser;The Journal of clinical endocrinology and metabolism,2018

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