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10.1055/s-0035-1554980

http://scihub22266oqcxt.onion/10.1055/s-0035-1554980
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C4906420!4906420!27617114
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suck abstract from ncbi


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pmid27617114      J+Pediatr+Genet 2015 ; 4 (1): 34-7
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  • A Case of the 7p22 2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome #MMPMID27617114
  • Cox DM; Butler MG
  • J Pediatr Genet 2015[Mar]; 4 (1): 34-7 PMID27617114show ga
  • We report a 14-year-old Hispanic male with a microduplication of the chromosome 7p22.2 band detected through microarray analysis. He had a history of developmental delay and mild intellectual disability, asthma, myopia, proportionate short stature, dysmorphic features, and Achilles tendon release. This appears to be the first report of a patient with a microduplication of only the chromosome 7p22.2 band and is now the smallest reported duplication to date to include features in common with the chromosome 7p22 duplication syndrome.
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