Browsing by Subject "de novo KMT2 Avariants"
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Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
(2019-04-26)Abstract: De novo loss-of-function (LoF) variants in theKMT2Agene are associated with Wiedemann−Steiner Syndrome (WSS). Recently, de novo KMT2 Avariants have been identified in sequencing studies of cohorts of individuals ...