- Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
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Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S
- KMID: 2422481
- Ann Pediatr Endocrinol Metab.
- 2018 Sep;23(3):158-161.
- doi: 10.6065/apem.2018.23.3.158
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... -
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