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- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
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Ji-Hee Yoon
, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi - Ann Pediatr Endocrinol Metab. 2024;29(1):54-59. Published online February 29, 2024
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- Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome
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Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
- Ann Pediatr Endocrinol Metab. 2023;28(2):77-86. Published online June 30, 2023
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- Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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Hamza Nasir
, Syed Ibaad Ali
, Naeem Haque, Stefan K. Grebe, Salman Kirmani - Ann Pediatr Endocrinol Metab. 2018;23(3):158-161. Published online September 28, 2018
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- Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
- Ann Pediatr Endocrinol Metab. 2016;21(1):1-6. Published online March 31, 2016
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- Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
- Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park
- Ann Pediatr Endocrinol Metab. 2013;18(3):128-134. Published online September 30, 2013
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