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

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 testing (P...

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Detalles Bibliográficos
Autores principales: Xu, Huiling, Pu, Jiajie, Lin, Suiling, Hu, Rui, Yao, Jilong, Li, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242808/
https://www.ncbi.nlm.nih.gov/pubmed/37277873
http://dx.doi.org/10.1186/s13039-023-00641-5

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