Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.
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| Title: | Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes. |
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| Authors: | Bakır, Damla Baysal1 (AUTHOR) damla.baysalbakir@deu.edu.tr, Atay, Özge1 (AUTHOR), Yağmur, Halime1 (AUTHOR), Kabadayı, Gizem1 (AUTHOR), Kocabey, Mehmet2 (AUTHOR), Asilsoy, Suna1 (AUTHOR), Uzuner, Nevin1 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 10/3/2025, Vol. 20 Issue 1, p1-11. 11p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-025-03942-7 |
