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Article

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

American journal of medical genetics. Part A - 1 Sept 2010

Stark Zornitza, Ryan Monique M, Bruno Damien L, Burgess Trent, Savarirayan Ravi

Abstract excerpt

We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of...

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Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20684011
DOI: 10.1002/ajmg.a.33590

Genes

SGCE

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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