Article

Preimplantation Genetic Testing for Aicardi–Goutières Syndrome Induced by Novel Compound Heterozygous Mutations of TREX1: an unaffected Live Birth

2023-02-03

Abstract excerpt

<h4>Background: </h4> Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. Which is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Preimplantation genetic testing (PGT) is a procedure that could choose unaffected embryos to transferr after analysis of biopsied cells, w...

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Literature Corpus work: 01e87c62-cff4-55d6-ac36-a6d39be4672f
DOI: 10.21203/rs.3.rs-2538000/v1

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