Article

Multi-dimensional insight into the coexistence of pathogenic genes for ADAR1 and TSC2: careful consideration is essential for interpretation of ADAR1 variants

2023-05-02

Abstract excerpt

<h4>Background: </h4> Aicardi-Goutières syndrome 6 (AGS6) is a serious auto immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly. Dyschromatosis symmetrica hereditaria (DSH), as pigmentary genodermatosis, is characterized mixture of hyperpigmented and hypopigmented macules. Bot...

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Literature Corpus work: 5baa04d1-ce77-5966-86e9-67be567bae1c
DOI: 10.21203/rs.3.rs-2867451/v1

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