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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...

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Detalles Bibliográficos
Autores principales:	Begic, N, Begic, Z, Begic, E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2021
Materias:	Case Report
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

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