Exploring the role of aneuploidy in phenotypic variability
Phenotypic variability is a noted feature of human trisomies. This is exemplified by the presentation of trisomy 21 (Down syndrome). The incidence of and severity of clinical features are highly variable in individuals with Down syndrome. These differences have long been attributed to genetic differ...
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| Format: | Thesis |
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Massachusetts Institute of Technology
2022
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| Online Access: | https://hdl.handle.net/1721.1/143406 |