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

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

Abstract Background 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 interferon-α levels in the cerebrospinal fluid. Preimplantation genetic te...

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Bibliographic Details
Main Authors: Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao, Xuemei Li
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Molecular Cytogenetics
Subjects:
Aicardi–Goutières syndrome
TREX1
PGT-M
Monogenic disease
Online Access:https://doi.org/10.1186/s13039-023-00641-5

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