Aicardi–Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test

Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterised by progressive encephalopathy, involving microcephaly, intracranial calcification, and cerebrospinal fluid lymphocytosis with increased interferon-α concentrations. The clinical features of AGS overlap with fetal cerebral anom...

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Detalles Bibliográficos
Autores principales: Senju, Chikako, Nakazawa, Yuka, Shimada, Mayuko, Iwata, Dai, Matsuse, Michiko, Tanaka, Katsumi, Miyazaki, Yasushi, Moriwaki, Shinichi, Mitsutake, Norisato, Ogi, Tomoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673124/
https://www.ncbi.nlm.nih.gov/pubmed/36405817
http://dx.doi.org/10.3389/fped.2022.1048002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673124/
https://www.ncbi.nlm.nih.gov/pubmed/36405817
http://dx.doi.org/10.3389/fped.2022.1048002

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