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Coexistence of genetic conditions: exploring a possible relationship
We report on a 3-year-old boy who has congenital adrenal hyperplasia and a suspected Van Maldergem syndrome, another genetic condition, with the classic phenotype seen in our patient. The latter diagnosis was supported by a genetic test that showed a novel and likely pathogenic variant in a previous...
Sparad:
| I publikationen: | Sudan J Paediatr |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Sudan Association of Paediatricians
2019
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6589797/ https://ncbi.nlm.nih.gov/pubmed/31384091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.24911/SJP.106-1554459680 |
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