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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...

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Bibliografiska uppgifter
I publikationen:Sudan J Paediatr
Huvudupphovsmän: Alaqeel, Bothainah, Babiker, Amir, Al Mutairi, Fuad, Al Dubayee, Mohammed
Materialtyp: Artigo
Språk:Inglês
Publicerad: Sudan Association of Paediatricians 2019
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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