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Article

Down syndrome genetics: unravelling a multifactorial disorder.

Human molecular genetics - 1 Jan 1996

Hernandez D, Fisher E M

Abstract excerpt

Down syndrome is a common disorder affecting many tissues both during development and later on in adult life; the principle feature of all cases is a specific form of mental retardation, which is combined with a range of variable traits. Down syndrome is an aneuploidy syndrome that is caused by trisomy for human chromosome 21. While the phenotype is most likely due to a subtle increase in gene dosage of only a...

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PMID: 8875245
DOI: 10.1093/hmg/5.supplement_1.1411

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