Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

Asparagine synthetase deficiency (ASNSD) is a rare congenital disorder characterized by severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by variations of the ASNS gene. The present study showed a Chinese family with a fetus s...

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Detalles Bibliográficos
Autores principales: Zhu, Linyan, Sun, Yixi, Xu, Yuqing, Jin, Pengzhen, Ding, Huiqing, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611455/
https://www.ncbi.nlm.nih.gov/pubmed/37900678
http://dx.doi.org/10.3389/fped.2023.1273789

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10611455/
https://www.ncbi.nlm.nih.gov/pubmed/37900678
http://dx.doi.org/10.3389/fped.2023.1273789

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