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Article

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.

Journal of human genetics - 1 Jan 2011

Yamazawa Kazuki, Nakabayashi Kazuhiko, Matsuoka Kentaro, Masubara Keiko, Hata Kenichiro, Horikawa Reiko, Ogata Tsutomu

Abstract excerpt

This report describes androgenetic/biparental mosaicism in a 4-year-old Japanese girl with Beckwith-Wiedemann syndrome (BWS)-like and paternal uniparental disomy 14 (upd(14)pat)-like phenotypes. We performed methylation analysis for 18 differentially methylated regions on various chromosomes, genome-wide microsatellite analysis for a total of 90 loci and expression analysis of SNRPN in leukocytes. Consequently,...

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Source

Identifiers

PMID: 21068742
DOI: 10.1038/jhg.2010.142

Genes

SNRPN

Provenance

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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