Preimplantation genetic testing for Aicardi –Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth

Aicardi –Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in int...

Source: Molecular Cytogenetics - June 5, 2023 Category: Molecular Biology Authors: Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao and Xuemei Li Tags: Case Report Source Type: research