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Article

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

American journal of medical genetics. Part A - 1 Dec 2016

Yarbrough Kevin, Danko Calida, Krol Alfons, Zonana Jonathan, Leitenberger Sabra

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is classically characterized by early-onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional...

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Identifiers

PMID: 27604406
DOI: 10.1002/ajmg.a.37944

Genes

SAMHD1

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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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