Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on t...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-12-01
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Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919301089 |