A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency

Abstract 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...

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Hlavní autoři:	Chun Wang, Guiyuan He, Yusong Ge, Runjie Li, Zhenguo Li, Yongzhong Lin
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2020-06-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	ASNS asparagine synthetase deficiency bioinformatics analyses novel mutation whole exome sequencing
On-line přístup:	https://doi.org/10.1002/mgg3.1235
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