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...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Chun, He, Guiyuan, Ge, Yusong, Li, Runjie, Li, Zhenguo, Lin, Yongzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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

Ejemplares similares