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Article

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.

European journal of medical genetics - 1 Sept 2021

Abraham Suneetha Susan Cleave, Yoganathan Sangeetha, Koshy Beena, Oommen Samuel Philip, Simon Anna, Mathai Sarah, Korula Sophy, Mathew Lydia, Sathishkumar Dharshini, Jasper Anitha, George Renu, Danda Sumita

Abstract excerpt

Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome, manifesting early as encephalopathy and is associated with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and intracranial calcification. The most severe neonatal type, AGS1, is caused by biallelic disease-causing variants in TREX1. In this study, we describe four patients with TREX1-related AGS1...

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PMID: 34303877
DOI: 10.1016/j.ejmg.2021.104291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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