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April 27, 2026Case Reports in GeneticsOpen Access

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

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Authors

ELEsther LevyLELeighton ElliottMMMichal A. Miller

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Overview

Case report shows prolonged survival with exon 9 deletion in Perlman syndrome, suggesting management importance.

Key Points

  • To document a case of prolonged survival in a patient with Perlman syndrome with a homozygous deletion of exon 9.
  • Described the clinical management and surveillance of a patient with Perlman syndrome
  • Documented outcomes related to the patient's survival and health status
  • The patient is the only known individual with Perlman syndrome to survive beyond 2 years with this specific deletion
  • Survival may be improved with diligent management and surveillance strategies

Cite This Study

Levy et al. (2026) studied this question.

synapsesocial.com/papers/69eefd9bfede9185760d445ahttps://doi.org/10.1155/crig/9916711
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