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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Chun Wang, Guiyuan He, Yusong Ge, Runjie Li, Zhenguo Li, Yongzhong Lin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-06-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	ASNS asparagine synthetase deficiency bioinformatics analyses novel mutation whole exome sequencing
Acesso em linha:	https://doi.org/10.1002/mgg3.1235
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!