ArticleCase reports in genetics2026
Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.
Article in Case reports in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.Case reports in genetics · 2026Article
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4 authors.
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Abstract
Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships. Survival is predicted by differences among various germline mutations in the DIS3L2 gene on chromosome 2q37.1, with prolonged survival documented in heterozygous mutations allowing partial exoribonuclease function. Although homozygous deletions of exon 9 are rare and have been associated with poor survival, we describe a case report of the only known patient with Perlman syndrome to live past 2 years old with this deletion. Diligent management and surveillance may be associated with prolonged survival in Perlman syndrome.
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