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March 1, 2024BMJ Case Reports

Variant ataxia telangiectasia identified during evaluation for short stature

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Authors

ASAnitha SokayTLTimothy Ronan LeahyMOMary O’Regan

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Cite This Study

Sokay et al. (2024) studied this question.

synapsesocial.com/papers/68e76825b6db6435876dd91chttps://doi.org/10.1136/bcr-2023-257736
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge2025
  2. 2Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses2024
  3. 3Intrafamilial Variability in Ataxia-Telangiectasia: A Case Report of Three Siblings with Identical ATM Mutations2025
  4. 4Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report2025
  5. 5Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes2025