Compound heterozygosity for a whole gene deletion and p.R124C mutation in causing nonclassic congenital adrenal hyperplasia
We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2018-09-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |