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Article

Genome-wide androgenetic mosaicism.

Clinical genetics - 1 Mar 2014

Johnson J P, Waterson J, Schwanke C, Schoof J

Abstract excerpt

Individuals with mosaic paternal uniparental disomy (UPD) of apparently all chromosomes have recently been described. They show a 46,XX karyotype, but with a mixture of normal biparental cells and cells entirely of paternal isodisomic origin. We describe an infant who primarily showed signs of Beckwith-Wiedemann syndrome (BWS), but also had other severe and eventually lethal medical problems, notably refractory...

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Identifiers

PMID: 23509941
DOI: 10.1111/cge.12146

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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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