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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.
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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An: 188474842
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  Data: 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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  Data: <searchLink fieldCode="AR" term="%22Bakır%2C+Damla+Baysal%22">Bakır, Damla Baysal</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> damla.baysalbakir@deu.edu.tr</i><br /><searchLink fieldCode="AR" term="%22Atay%2C+Özge%22">Atay, Özge</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yağmur%2C+Halime%22">Yağmur, Halime</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kabadayı%2C+Gizem%22">Kabadayı, Gizem</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kocabey%2C+Mehmet%22">Kocabey, Mehmet</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Asilsoy%2C+Suna%22">Asilsoy, Suna</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Uzuner%2C+Nevin%22">Uzuner, Nevin</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 10/3/2025, Vol. 20 Issue 1, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188474842
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-025-03942-7
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      – Code: eng
        Text: English
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      – TitleFull: 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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            NameFull: Bakır, Damla Baysal
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            NameFull: Atay, Özge
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            NameFull: Yağmur, Halime
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            NameFull: Kabadayı, Gizem
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            NameFull: Kocabey, Mehmet
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              M: 10
              Text: 10/3/2025
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              Y: 2025
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            – TitleFull: Orphanet Journal of Rare Diseases
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