A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
Be the first to leave a comment!
