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• W4293179969 abstract "Identification of the chromosome 22q11.2 deletion (22q11.2DS) was a breakthrough in understanding the cause of DiGeorge syndrome, among other clinically described diagnoses. This discovery was not the end but rather the beginning of extensive investigations aimed at unraveling the mechanisms leading to the broad phenotypic variability associated with 22q11.2DS, including multiple congenital and later-onset conditions. Standard clinical testing can detect the chromosome deletion as early as prenatally, but there is yet no way to predict the severity of expression in any single individual. This has been identified as a crucial knowledge gap by researchers, clinicians, and affected families. A main question in 22q11.2DS research is aimed toward understanding the underlying mechanisms resulting in this phenotypic variability. In this chapter, we explore the potential future research directions that may help elucidate such mechanisms." @default.
• W4293179969 created "2022-08-27" @default.
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• W4293179969 date "2022-01-01" @default.
• W4293179969 modified "2023-10-16" @default.
• W4293179969 title "22q11.2 deletion syndrome: Future directions" @default.
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• W4293179969 doi "https://doi.org/10.1016/b978-0-12-816047-3.00005-8" @default.
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