DEGS1 variant causes neurological disorder
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DOI: 10.1038/s41431-019-0444-z
Abstract: Sphingolipidoses are monogenic lipid storage diseases caused by variants in enzymes of lipid synthesis and metabolism. We describe an autosomal recessive complex neurological disorder affecting consanguineous kindred. All four affected individuals, born at term following… read more here.
Keywords: neurological disorder; causes neurological; disorder; affected individuals ... See more keywords