Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p.Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY.
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| Description | scientific article published on 16 February 2017 |
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author: Adam Morton |
| Publication date | February 16, 2017 |
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