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Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

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http://europepmc.org/articles/PMC4502905?pdf=render
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Abstract

© 2015 Qi et al.Background: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the

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