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Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia

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References

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Authors and Affiliations

  1. Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    Harikrishnan Gangadharan, Komal Singh & Amita Aggarwal

  2. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    Shubha Phadke

Authors
  1. Harikrishnan Gangadharan
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  2. Komal Singh
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  3. Shubha Phadke
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  4. Amita Aggarwal
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Corresponding author

Correspondence to Amita Aggarwal.

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Ethical Statement:

We obtained informed consent from the parents of the patient including consent for publication. The study on primary immunodeficiency has been approved by the Institutional ethics committee (2014–186-EMP-EXP dated 22 Oct 2014).

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Gangadharan, H., Singh, K., Phadke, S. et al. Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia. Indian J Pediatr 88, 270–271 (2021). https://doi.org/10.1007/s12098-020-03502-w

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  • DOI: https://doi.org/10.1007/s12098-020-03502-w

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