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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| 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 |