Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis
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DOI: 10.1371/journal.pgen.1009112
Abstract: We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents.… read more here.
Keywords: neurodevelopmental defects; phenotypic; second hit; hit genes ... See more keywords