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Article

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 May 2013

Morris Mark R, Astuti Dewi, Maher Eamonn R

Abstract excerpt

Perlman syndrome is a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis and multiple congenital anomalies. Perlman syndrome is associated with high neonatal mortality and, survivors have developmental delay and a high risk of Wilms tumor. Recently a Perlman syndrome locus was...

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Identifiers

PMID: 23613427
DOI: 10.1002/ajmg.c.31358

Genes

DIS3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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