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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Hlavní autoři:	Linyan Zhu, Yixi Sun, Yuqing Xu, Pengzhen Jin, Huiqing Ding, Minyue Dong
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-10-01
Edice:	Frontiers in Pediatrics
Témata:	ASNS prenatal diagnosis asparagine synthetase deficiency whole-exome sequencing case report
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2023.1273789/full
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