Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense va...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sciendo
2021-07-01
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| coleção: | Balkan Journal of Medical Genetics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.2478/bjmg-2021-0002 |
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