Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported...

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Detalles Bibliográficos
Autores principales: Świerczyńska, Marta, Tronina, Agnieszka, Filipek, Erita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672266/
https://www.ncbi.nlm.nih.gov/pubmed/38003924
http://dx.doi.org/10.3390/jpm13111609

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672266/
https://www.ncbi.nlm.nih.gov/pubmed/38003924
http://dx.doi.org/10.3390/jpm13111609

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