A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progr...

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Detalles Bibliográficos
Autores principales: Eren, Elif Ece, Bilgin, Nurbanu, Urganci, Nafiye, Kose, Gulsen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298070/
https://www.ncbi.nlm.nih.gov/pubmed/34349606
http://dx.doi.org/10.14744/SEMB.2020.34651

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298070/
https://www.ncbi.nlm.nih.gov/pubmed/34349606
http://dx.doi.org/10.14744/SEMB.2020.34651

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