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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Sciendo
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366476/ https://www.ncbi.nlm.nih.gov/pubmed/34447666 http://dx.doi.org/10.2478/bjmg-2021-0002 |