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Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous α3 Integrin Deficiency

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Abstract

Interstitial lung disease with nephrotic syndrome and junctional epidermolysis bullosa is caused by biallelic mutations in the integrin gene ITGA3 and is associated with death in infancy. We describe a variant of this syndrome with delayed presentation of symptoms and prolonged survival.

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References

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Authors and Affiliations

  1. Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, India

    Sumitha Udayashankar Tarur, S. Srinivasan & Arasar Seeralar

Authors
  1. Sumitha Udayashankar Tarur
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  2. S. Srinivasan
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  3. Arasar Seeralar
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Corresponding author

Correspondence to Sumitha Udayashankar Tarur.

Additional information

Contributors: SUT: worked up the case and drafted the manuscript; SS,AS: helped in diagnosis, management, and manuscript revision.

Funding: Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, India.

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Tarur, S.U., Srinivasan, S. & Seeralar, A. Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous α3 Integrin Deficiency. Indian Pediatr 57, 268–269 (2020). https://doi.org/10.1007/s13312-020-1767-0

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  • DOI: https://doi.org/10.1007/s13312-020-1767-0

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