- A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency
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Jin DK, Kim JS, Song SM, Park SJ, Hwang HZ, On HY, Oh PS, Koh SW, Uhm MR, Lee DH, Shin JH, Han HS, Kim HS, Ko CW, Yoo HW, Lee JS, Kim DH
- KMID: 2199617
- J Korean Soc Endocrinol.
- 2000 Jun;15(2):237-247.
BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that... -
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