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Article

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Journal of the American Society of Nephrology : JASN - 1 Aug 2002

Goldman Michael, Smith Adam, Shuman Cheryl, Caluseriu Oana, Wei Chihong, Steele Leslie, Ray Peter, Sadowski Paul, Squire Jeremy, Weksberg Rosanna, Rosenblum Norman D

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihyperplasia and renal malformations. BWS is associated with disruption of genomic imprinting and/or mutations in one or more genes encoded on 11p15.5, including CDKN1C (p57(KIP2)). It was hypothesized that genotypic and epigenotypic abnormalities of the 11p15.5 region...

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Identifiers

PMID: 12138139
DOI: 10.1097/01.asn.0000023431.16173.55

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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