A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review

BackgroundAicardi-Goutières syndrome type 5 (AGS5) is a rare pediatric-onset monogenic interferonopathy caused by loss-of-function variants in the SAMHD1 gene. Affected individuals typically present in infancy with microcephaly, leukodystrophy, intracranial calcifications, developmental delay, and s...

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Autori principali:	Hammad Yousaf, Zehra Zonash, Javeria Manzoor, Asmat Ali, Lubaba Bintee Khalid, Ghazala Zafar, Sajid Ali, Mathias Toft, Ambrin Fatima, Zafar Iqbal
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-05-01
Serie:	Frontiers in Pediatrics
Soggetti:	AGS5 interferonopathy SAMHD1 variable expressivity whole-exome sequencing
Accesso online:	https://www.frontiersin.org/articles/10.3389/fped.2026.1787581/full
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