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A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita
A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2007
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3479083/ https://ncbi.nlm.nih.gov/pubmed/17308433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000099835 |
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