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A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by inheritable autosomal recessive mutations in the...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284041/ https://www.ncbi.nlm.nih.gov/pubmed/32255274 http://dx.doi.org/10.1002/mgg3.1235 |