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

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Title: A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.
Authors: Yousaf H; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Zonash Z; Aga Khan Medical College, Karachi, Pakistan., Manzoor J; Aga Khan Medical College, Karachi, Pakistan., Ali A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Khalid LB; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Zafar G; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Ali S; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Toft M; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Centre for Regenerative Medicine and Stem Cells Research, The Aga Khan University, Karachi, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway.
Source: Frontiers in pediatrics [Front Pediatr] 2026 May 15; Vol. 14, pp. 1787581. Date of Electronic Publication: 2026 May 15 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.
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  Data: <searchLink fieldCode="AU" term="%22Yousaf+H%22">Yousaf H</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zonash+Z%22">Zonash Z</searchLink>; Aga Khan Medical College, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Manzoor+J%22">Manzoor J</searchLink>; Aga Khan Medical College, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ali+A%22">Ali A</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khalid+LB%22">Khalid LB</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Zafar+G%22">Zafar G</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ali+S%22">Ali S</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Toft+M%22">Toft M</searchLink>; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Fatima+A%22">Fatima A</searchLink>; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Centre for Regenerative Medicine and Stem Cells Research, The Aga Khan University, Karachi, Pakistan.<br /><searchLink fieldCode="AU" term="%22Iqbal+Z%22">Iqbal Z</searchLink>; Department of Neurology, Oslo University Hospital, Oslo, Norway.
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  Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2026 May 15; Vol. 14, pp. 1787581. <i>Date of Electronic Publication: </i>2026 May 15 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Text: English
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              Text: 2026 May 15
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