Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome

Salt and pepper developmental regression syndrome (SPDRS) is an autosomal recessive disorder characterized by epilepsy, profound intellectual disability, choreoathetosis, scoliosis, and dermal pigmentation along with dysmorphic facial features. GM3 synthase deficiency is due to any pathogenic mutati...

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Detalles Bibliográficos
Autores principales: Abdulkareem, Angham Abdulrhman, Shirah, Bader H., Naseer, Muhammad Imran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957204/
https://www.ncbi.nlm.nih.gov/pubmed/36833282
http://dx.doi.org/10.3390/genes14020354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957204/
https://www.ncbi.nlm.nih.gov/pubmed/36833282
http://dx.doi.org/10.3390/genes14020354

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