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- W2050108508 abstract "► We report a boy with de novo 0.9 Mb deletion of 12q13.13 including the HOXC cluster. ► Comparison with 2 cases described previously points to a new microdeletion syndrome. ► Symptoms include developmental delay, skeletal anomalies and distal arthrogryposis. ► Reduced dose of HOXC and possibly also of the adjacent genes is likely deleterious." @default.
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- W2050108508 date "2013-03-01" @default.
- W2050108508 modified "2023-10-07" @default.
- W2050108508 title "Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes" @default.
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- W2050108508 doi "https://doi.org/10.1016/j.ejmg.2012.12.003" @default.
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