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10.2217/epi-2015-0010

http://scihub22266oqcxt.onion/10.2217/epi-2015-0010
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C4928503!4928503!27066913
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suck abstract from ncbi


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pmid27066913      Epigenomics 2016 ; 8 (4): 563-80
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  • New developments in Silver?Russell syndrome and implications for clinical practice #MMPMID27066913
  • Ishida M
  • Epigenomics 2016[Apr]; 8 (4): 563-80 PMID27066913show ga
  • Silver?Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver?Russell syndrome cases, while ?50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ?40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver?Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed.
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