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

Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, <i>ST3GAL5</i> 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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Bibliographic Details
Main Authors: Angham Abdulrhman Abdulkareem, Bader H. Shirah, Muhammad Imran Naseer
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
salt and pepper developmental regression syndrome
epilepsy
developmental delay
GM3 synthase
short stature
saudi arabia
Online Access:https://www.mdpi.com/2073-4425/14/2/354

Internet

https://www.mdpi.com/2073-4425/14/2/354

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