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- W3010552858 abstract "Maternal uniparental disomy of chromosome 4 (UPD 4) is a very rare genetic anomaly in which both copies of chromosome 4, or of part of chromosome 4, are inherited from the mother [ [1] Cottrell C.E. Mendell J. Hart-Kothari M. Ell D. Thrush D.L. Astbury C. et al. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clin. Genet. 2012; 81: 578-583 Crossref PubMed Scopus (14) Google Scholar , [2] Papadimitriou D.T. Manolakos E. Bothou C. Zoupanos G. Papoulidis I. Orru S. et al. Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. Diabetes Metab. 2015; 41: 433-435 Crossref PubMed Scopus (9) Google Scholar ]. Here, we report one paternity testing case with maternal uniparental disomy(UPD)." @default.
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- W3010552858 date "2020-05-01" @default.
- W3010552858 modified "2023-10-12" @default.
- W3010552858 title "Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats" @default.
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- W3010552858 doi "https://doi.org/10.1016/j.fsigen.2020.102273" @default.
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