Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.
7-dehydrocholesterol reductase (DHCR7) gene
Cholesterol
Metabolism
Smith-Lemli-Opitz syndrome (SLOS)
Treatment
Journal
Balkan journal of medical genetics : BJMG
ISSN: 1311-0160
Titre abrégé: Balkan J Med Genet
Pays: Poland
ID NLM: 9806959
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
entrez:
27
8
2021
pubmed:
28
8
2021
medline:
28
8
2021
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 34447666
doi: 10.2478/bjmg-2021-0002
pii: bjmg-2021-0002
pmc: PMC8366476
doi:
Types de publication
Journal Article
Langues
eng
Pagination
99-102Informations de copyright
© 2021 Begic N, Begic Z, Begic E, published by Sciendo.
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