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American Journal of Medical Genetics Archives

Mosaicism and genetic disease

Jun. 22, 2023—Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

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Cognition in rare hormonal disorder

Feb. 13, 2018—Vanderbilt investigators have conducted the first systematic evaluation of cognitive function in children with a rare genetic disorder.

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