A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.
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| Description | scientific article published in April 1999 |
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author: Yumi Asakura Masanori Adachi |
| Publication date | April 1, 1999 |
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