Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review

Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review

ABSTRACT Introduction Perlman syndrome is a rare autosomal recessive overgrowth disorder with a predisposition to Wilms tumor, caused by biallelic variants in DIS3L2. The majority of patients die in infancy due to respiratory and/or renal failure, limiting the reports of patients surviving into chil...

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Main Authors: Alayne P. Meyer, Daniel C. Koboldt, Swetha Ramadesikan, Kristin Zajo, Maria E. Hernandez Gonzalez, Anthony R. Miller, Douglas Depoorter, Catherine P. Comer, James I. Geller, Katherine Somers, Nilay Shah, Marco L. Leung
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.70124
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https://doi.org/10.1002/mgg3.70124

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